The full dataset viewer is not available (click to read why). Only showing a preview of the rows.
The dataset generation failed
Error code: DatasetGenerationError
Exception: ArrowInvalid
Message: JSON parse error: Invalid value. in row 0
Traceback: Traceback (most recent call last):
File "/usr/local/lib/python3.12/site-packages/datasets/packaged_modules/json/json.py", line 174, in _generate_tables
df = pandas_read_json(f)
^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/packaged_modules/json/json.py", line 38, in pandas_read_json
return pd.read_json(path_or_buf, **kwargs)
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/pandas/io/json/_json.py", line 791, in read_json
json_reader = JsonReader(
^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/pandas/io/json/_json.py", line 905, in __init__
self.data = self._preprocess_data(data)
^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/pandas/io/json/_json.py", line 917, in _preprocess_data
data = data.read()
^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/utils/file_utils.py", line 813, in read_with_retries
out = read(*args, **kwargs)
^^^^^^^^^^^^^^^^^^^^^
File "<frozen codecs>", line 322, in decode
UnicodeDecodeError: 'utf-8' codec can't decode byte 0x89 in position 0: invalid start byte
During handling of the above exception, another exception occurred:
Traceback (most recent call last):
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1815, in _prepare_split_single
for _, table in generator:
^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/packaged_modules/json/json.py", line 177, in _generate_tables
raise e
File "/usr/local/lib/python3.12/site-packages/datasets/packaged_modules/json/json.py", line 151, in _generate_tables
pa_table = paj.read_json(
^^^^^^^^^^^^^^
File "pyarrow/_json.pyx", line 342, in pyarrow._json.read_json
File "pyarrow/error.pxi", line 155, in pyarrow.lib.pyarrow_internal_check_status
File "pyarrow/error.pxi", line 92, in pyarrow.lib.check_status
pyarrow.lib.ArrowInvalid: JSON parse error: Invalid value. in row 0
The above exception was the direct cause of the following exception:
Traceback (most recent call last):
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1339, in compute_config_parquet_and_info_response
parquet_operations = convert_to_parquet(builder)
^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 972, in convert_to_parquet
builder.download_and_prepare(
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 894, in download_and_prepare
self._download_and_prepare(
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 970, in _download_and_prepare
self._prepare_split(split_generator, **prepare_split_kwargs)
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1702, in _prepare_split
for job_id, done, content in self._prepare_split_single(
^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1858, in _prepare_split_single
raise DatasetGenerationError("An error occurred while generating the dataset") from e
datasets.exceptions.DatasetGenerationError: An error occurred while generating the datasetNeed help to make the dataset viewer work? Make sure to review how to configure the dataset viewer, and open a discussion for direct support.
conversations
list | image
string |
|---|---|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Long palpebral fissure\n- Renal cortical cysts\n- Prominent fingertip pads\n- Tricuspid valve prolapse\n- Gastroesophageal reflux\n- Short stature\n- Decreased body weight\n- Tricuspid regurgitation\n- Gastrostomy tube feeding in infancy\n- Feeding difficulties\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Hypoplastic left heart syndrome"
}
] |
exported_images/00000.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- obsolete Sparse and thin eyebrow\n- Sparse eyelashes\n- Cutaneous photosensitivity\n- Poikiloderma\n- Sparse scalp hair\n- Lower-limb joint contracture\n- Lower limb muscle weakness\n- Sparse hair\n- Palmoplantar erythema\n- Abnormality on pulmonary function testing\n- Sparse eyebrow\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP"
}
] |
exported_images/00001.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Cleft palate\n- Thin upper lip vermilion\n- Microcephaly\n- Long philtrum\n- Micrognathia\n- High forehead\n- Low-set ears\n- Bulbous nose\n- Downslanted palpebral fissures\n- Ptosis\n- Motor delay\n- Generalized hypotonia\n- Failure to thrive\n- Mitral regurgitation\n- Patent foramen ovale\n- Abnormal cardiac ventricle morphology\n- Low posterior hairline\n- Generalized hirsutism\n- Recurrent bronchitis\n- Thoracolumbar scoliosis\n- Myopathy\n- Decreased cervical spine mobility\n- Distal arthrogryposis\n- Axial hypotonia\n- Ulnar deviation of the hand\n- Proximal placement of thumb\n- Darwin tubercle of helix\n- Nasogastric tube feeding in infancy\n- Perimembranous ventricular septal defect\n- Feeding difficulties\n- Hypoxemia\n- Clinodactyly\n- Tube feeding\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Klippel-Feil syndrome"
}
] |
exported_images/00002.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- High palate\n- Microcephaly\n- Full cheeks\n- Low-set ears\n- Bulbous nose\n- Downslanted palpebral fissures\n- Ptosis\n- Delayed speech and language development\n- Osteopenia\n- Muscle weakness\n- Intrauterine growth retardation\n- Hypoglycemia\n- Delayed gross motor development\n- Short stature\n- Feeding difficulties in infancy\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Klippel-Feil syndrome"
}
] |
exported_images/00003.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- High palate\n- Hydrocephalus\n- Micrognathia\n- Blue sclerae\n- Ataxia\n- Hypotonia\n- Global developmental delay\n- Hip dysplasia\n- Breech presentation\n- Episodic vomiting\n- Scoliosis\n- Medulloblastoma\n- Short palm\n- Cervical C2/C3 vertebral fusion\n- Bilateral single transverse palmar creases\n- Feeding difficulties in infancy\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Klippel-Feil syndrome"
}
] |
exported_images/00004.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Everted lower lip vermilion\n- Microcephaly\n- Bulbous nose\n- Underdeveloped nasal alae\n- Webbed neck\n- Ptosis\n- Motor delay\n- Generalized hypotonia\n- Weak cry\n- Premature birth\n- Breech presentation\n- Low posterior hairline\n- Delayed gross motor development\n- Unsteady gait\n- Frequent falls\n- Highly arched eyebrow\n- Fused cervical vertebrae\n- Subsarcolemmal accumulations of abnormally shaped mitochondria\n- Short stature\n- Decreased body weight\n- Absent phalangeal crease\n- Bowing of the long bones\n- Type 2 muscle fiber predominance\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Klippel-Feil syndrome"
}
] |
exported_images/00005.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- High palate\n- Thin upper lip vermilion\n- Narrow forehead\n- Long philtrum\n- Micrognathia\n- Low-set ears\n- Bulbous nose\n- Webbed neck\n- Short neck\n- Hirsutism\n- Muscle weakness\n- Bilateral ptosis\n- Intrauterine growth retardation\n- Weak voice\n- Low posterior hairline\n- Poor motor coordination\n- Hypocalcemia\n- Fused cervical vertebrae\n- Short stature\n- Decreased body weight\n- Abnormality of dental morphology\n- Feeding difficulties in infancy\n- Underdeveloped nasolabial fold\n- Mild microcephaly\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Klippel-Feil syndrome"
}
] |
exported_images/00006.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: African\n\nObserved phenotypic features:\n- Deeply set eye\n- Nystagmus\n- Carious teeth\n- Jaundice\n- Cutaneous photosensitivity\n- Ataxia\n- Splenomegaly\n- Vomiting\n- Diarrhea\n- Intention tremor\n- Hepatomegaly\n- Progressive neurologic deterioration\n- Abnormal cerebral white matter morphology\n- Inability to walk\n- Elevated hepatic transaminase\n- Short stature\n- Decreased body weight\n- Absent patellar reflexes\n- Postnatal growth retardation\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "COCKAYNE SYNDROME A; CSA"
}
] |
exported_images/00007.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: African\n\nObserved phenotypic features:\n- Sensorineural hearing impairment\n- Deeply set eye\n- Cataract\n- Pigmentary retinopathy\n- Carious teeth\n- Ataxia\n- Mental deterioration\n- Progressive neurologic deterioration\n- Elevated hepatic transaminase\n- Peripheral axonal neuropathy\n- Difficulty standing\n- Short stature\n- Decreased body weight\n- Severe postnatal growth retardation\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "COCKAYNE SYNDROME A; CSA"
}
] |
exported_images/00008.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: African\n\nObserved phenotypic features:\n- Sparse eyelashes\n- Delayed puberty\n- Hypohidrosis\n- Poikiloderma\n- Muscle weakness\n- Growth delay\n- Dysphagia\n- Restrictive ventilatory defect\n- Sparse scalp hair\n- Loss of ambulation\n- Areflexia of lower limbs\n- Scoliosis\n- Respiratory insufficiency due to muscle weakness\n- Myopathy\n- Skeletal muscle atrophy\n- Muscular dystrophy\n- Involuntary movements\n- Lower-limb joint contracture\n- Sparse hair\n- Mildly elevated creatine kinase\n- Fatty replacement of skeletal muscle\n- Reduced muscle fiber calpain-3\n- Skeletal muscle fibrosis\n- Sparse eyebrow\n- Upper-limb joint contracture\n- Sclerosis of finger phalanx\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP"
}
] |
exported_images/00009.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Microcephaly\n- Macrotia\n- Delayed speech and language development\n- Short stature\n- Decreased body weight\n- Attention deficit hyperactivity disorder\n- Delayed fine motor development\n- Intellectual disability, severe\n- Delayed social development\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72"
}
] |
exported_images/00010.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Microcephaly\n- Low-set, posteriorly rotated ears\n- Prominent nose\n- Broad nasal tip\n- Autistic behavior\n- Self-mutilation\n- Spasticity\n- Global developmental delay\n- Absent speech\n- Tachycardia\n- Nonimmune hydrops fetalis\n- Truncal ataxia\n- Gait imbalance\n- Decreased body weight\n- Intellectual disability, severe\n- Wide nasal base\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72"
}
] |
exported_images/00011.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Microcephaly\n- Low-set, posteriorly rotated ears\n- Prominent nose\n- Broad nasal tip\n- Autistic behavior\n- Self-mutilation\n- Delayed speech and language development\n- Spasticity\n- Global developmental delay\n- Atrial septal defect\n- Pulmonic stenosis\n- Truncal ataxia\n- Short stature\n- Decreased body weight\n- Intellectual disability, severe\n- Wide nasal base\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72"
}
] |
exported_images/00012.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Neurogenic bladder\n- Inguinal hernia\n- Cryptorchidism\n- Hypospadias\n- Hydrocephalus\n- Epicanthus\n- Hypertelorism\n- Micrognathia\n- Posteriorly rotated ears\n- Abnormal retinal morphology\n- Dental crowding\n- Delayed speech and language development\n- Single transverse palmar crease\n- Single umbilical artery\n- Abnormal fingertip morphology\n- Hypotonia\n- Dysarthria\n- Motor delay\n- Abnormal corpus callosum morphology\n- Abnormal cerebellum morphology\n- Flexion contracture\n- Bilateral ptosis\n- Umbilical hernia\n- Diastasis recti\n- Pulmonic stenosis\n- Patent ductus arteriosus\n- Overlapping toe\n- Constipation\n- Respiratory distress\n- Low posterior hairline\n- Choroid plexus cyst\n- Hepatomegaly\n- Drooling\n- Abnormal venous morphology\n- Inverted nipples\n- Renal malrotation\n- Agenesis of permanent teeth\n- Wide intermamillary distance\n- Lower limb hypertonia\n- Attention deficit hyperactivity disorder\n- Bilateral sensorineural hearing impairment\n- Feeding difficulties in infancy\n- Stridor\n- Overlapping fingers\n- Abnormal number of hair whorls\n- Right bundle branch block\n- Flat face\n- Narrow palpebral fissure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD"
}
] |
exported_images/00013.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Proteinuria\n- Thick lower lip vermilion\n- High palate\n- Everted lower lip vermilion\n- Microcephaly\n- Narrow face\n- Long face\n- Coarse facial features\n- Short philtrum\n- Conductive hearing impairment\n- Sensorineural hearing impairment\n- Optic atrophy\n- Compulsive behaviors\n- Delayed speech and language development\n- Abnormal sternum morphology\n- Edema\n- Intellectual disability\n- Seizure\n- Motor delay\n- Flexion contracture\n- Joint hypermobility\n- Delayed closure of the anterior fontanelle\n- Atrial septal defect\n- Patent ductus arteriosus\n- Bicuspid aortic valve\n- Aortic regurgitation\n- Overlapping toe\n- Tethered cord\n- Pulmonary embolism\n- Motor deterioration\n- Poor speech\n- Scoliosis\n- Osteoarthritis\n- Meningioma\n- Abnormality of tibia morphology\n- Hyperlipidemia\n- Arterial calcification\n- Syringomyelia\n- Short stature\n- Cranial nerve paralysis\n- Lower limb muscle weakness\n- Pes valgus\n- Superiorly displaced ears\n- Feeding difficulties in infancy\n- Leg muscle stiffness\n- Overlapping fingers\n- Protruding tongue\n- Avascular necrosis\n- Joint subluxation\n- Narrow palpebral fissure\n- Hypersomnia\n- Recurrent ear infections\n- Cerebral infarct\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD"
}
] |
exported_images/00014.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Parietal bossing\n- Trigonocephaly\n- Epicanthus\n- Low anterior hairline\n- Pointed chin\n- High forehead\n- Cystic hygroma\n- Deeply set eye\n- Ptosis\n- Carious teeth\n- Atypical behavior\n- Autism\n- Jaundice\n- Syndactyly\n- Prominent fingertip pads\n- Small thenar eminence\n- Seizure\n- Absent speech\n- Intrauterine growth retardation\n- Pes planus\n- Sandal gap\n- Clinodactyly of the 5th toe\n- Frontal bossing\n- Constipation\n- Developmental regression\n- Abnormal venous morphology\n- Cubitus valgus\n- Inverted nipples\n- Metacarpophalangeal joint hyperextensibility\n- Wide intermamillary distance\n- Attention deficit hyperactivity disorder\n- Excessive wrinkling of palmar skin\n- Pes valgus\n- Proximal placement of thumb\n- Broad hallux\n- Small hypothenar eminence\n- Abnormality of the palmar creases\n- Abnormal number of hair whorls\n- Clinodactyly of the 4th toe\n- Feeding difficulties\n- Abnormal lateral ventricle morphology\n- Clinodactyly\n- Motor regression\n- Hypersomnia\n- Infra-orbital crease\n- Abnormal jugular vein morphology\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD"
}
] |
exported_images/00015.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Unknown\n\nObserved phenotypic features:\n- Trigonocephaly\n- Epicanthus\n- Low-set ears\n- Broad nasal tip\n- Ptosis\n- Pseudopapilledema\n- Pectus carinatum\n- Missing ribs\n- Sacral dimple\n- Global developmental delay\n- Cerebellar atrophy\n- Umbilical hernia\n- Right ventricular hypertrophy\n- Double outlet right ventricle\n- Deep plantar creases\n- Abnormal bleeding\n- Cerebral atrophy\n- Tethered cord\n- Curly hair\n- Neonatal respiratory distress\n- Inverted nipples\n- Hypoplastic left heart\n- Pulmonary artery atresia\n- Depressed nasal bridge\n- Redundant neck skin\n- Deep palmar crease\n- Sparse hair\n- Long toe\n- Prominent forehead\n- Broad eyebrow\n- Feeding difficulties\n- Systolic heart murmur\n- Sparse eyebrow\n- Long fingers\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD"
}
] |
exported_images/00016.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: African\n\nObserved phenotypic features:\n- Microcephaly\n- Full cheeks\n- Narrow forehead\n- Small forehead\n- Anteverted nares\n- Neonatal insulin-dependent diabetes mellitus\n- Osteopenia\n- Jaundice\n- Seizure\n- Agenesis of corpus callosum\n- Generalized hypotonia\n- Cerebellar vermis hypoplasia\n- Pneumonia\n- Intellectual disability, profound\n- Recurrent respiratory infections\n- Lower limb hyperreflexia\n- Scoliosis\n- High, narrow palate\n- Pathologic fracture\n- Hyperglycemia\n- Slender long bone\n- Short stature\n- Decreased body weight\n- Axial hypotonia\n- Simplified gyral pattern\n- Tented upper lip vermilion\n- EEG with burst suppression\n- EEG with generalized sharp slow waves\n- Feeding difficulties\n- Infantile spasms\n- Profound global developmental delay\n- Myoclonic seizure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Microcephaly, epilepsy, and diabetes syndrome"
}
] |
exported_images/00017.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: African\n\nObserved phenotypic features:\n- Open mouth\n- Gingival overgrowth\n- Microcephaly\n- Full cheeks\n- Narrow forehead\n- Small forehead\n- Anteverted nares\n- Optic atrophy\n- Neonatal insulin-dependent diabetes mellitus\n- Osteopenia\n- Edema\n- Lethargy\n- Agenesis of corpus callosum\n- Myoclonus\n- Brisk reflexes\n- Cerebral atrophy\n- Scoliosis\n- High, narrow palate\n- Ketonuria\n- Hyperglycemia\n- Slender long bone\n- Clinodactyly of the 5th finger\n- Respiratory infections in early life\n- Axial hypotonia\n- Simplified gyral pattern\n- Tented upper lip vermilion\n- EEG with burst suppression\n- Infantile spasms\n- Albuminuria\n- Profound global developmental delay\n- Myoclonic seizure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Microcephaly, epilepsy, and diabetes syndrome"
}
] |
exported_images/00018.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: African\n\nObserved phenotypic features:\n- Gingival overgrowth\n- Microcephaly\n- Full cheeks\n- Narrow forehead\n- Small forehead\n- Anteverted nares\n- Neonatal insulin-dependent diabetes mellitus\n- Osteopenia\n- Jaundice\n- Agenesis of corpus callosum\n- Myoclonus\n- Scoliosis\n- High, narrow palate\n- Hyperglycemia\n- Slender long bone\n- Simplified gyral pattern\n- Tented upper lip vermilion\n- EEG with burst suppression\n- Infantile spasms\n- Profound global developmental delay\n- Myoclonic seizure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Microcephaly, epilepsy, and diabetes syndrome"
}
] |
exported_images/00019.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Vesicoureteral reflux\n- Horseshoe kidney\n- Wide mouth\n- Thick lower lip vermilion\n- Microcephaly\n- Mandibular prognathia\n- Bulbous nose\n- Visual impairment\n- Abnormal repetitive mannerisms\n- Hyperactivity\n- Decreased response to growth hormone stimulation test\n- Seizure\n- Hypotonia\n- Cerebellar atrophy\n- Abnormal corpus callosum morphology\n- Absent speech\n- Gastroesophageal reflux\n- Bilateral tonic-clonic seizure\n- Generalized non-motor (absence) seizure\n- Abnormal caudate nucleus morphology\n- Sleep disturbance\n- Clinodactyly of the 5th finger\n- Sparse lateral eyebrow\n- Bilateral single transverse palmar creases\n- Mild neurosensory hearing impairment\n- Anterior pituitary hypoplasia\n- Intellectual disability, severe\n- Severe global developmental delay\n- Infantile spasms\n- Unilateral cryptorchidism\n- Exodeviation\n- Mild myopia\n- Sleep onset insomnia\n- Maintenance insomnia\n- Mild hypermetropia\n- Unilateral cleft lip\n- Unilateral cleft palate\n- Esophagitis\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB"
}
] |
exported_images/00020.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: African\n\nObserved phenotypic features:\n- Cryptorchidism\n- Hypospadias\n- High palate\n- Microcephaly\n- Epicanthus\n- Round face\n- Anteverted nares\n- Atypical behavior\n- Dandy-Walker malformation\n- Umbilical hernia\n- Ventricular septal defect\n- Pulmonic stenosis\n- Dysphagia\n- Bilateral tonic-clonic seizure\n- Polymicrogyria\n- Dilated fourth ventricle\n- Sleep disturbance\n- Downturned corners of mouth\n- Aspiration\n- Clinodactyly of the 5th finger\n- Short stature\n- Dysplastic pulmonary valve\n- Depressed nasal bridge\n- Mild conductive hearing impairment\n- Epiblepharon\n- Severe global developmental delay\n- Feeding difficulties\n- Head-banging\n- Flat face\n- Frequent temper tantrums\n- Sleep onset insomnia\n- Maintenance insomnia\n- Myoclonic seizure\n- Submucous cleft of soft and hard palate\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB"
}
] |
exported_images/00021.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Inguinal hernia\n- Cryptorchidism\n- Microcephaly\n- Epicanthus\n- Hypertelorism\n- Low-set ears\n- Strabismus\n- Hypermetropia\n- Delayed speech and language development\n- Intellectual disability\n- Hypotonia\n- Global developmental delay\n- Plagiocephaly\n- Craniosynostosis\n- Atrial septal defect\n- Patent foramen ovale\n- Poor suck\n- Sleep disturbance\n- Supernumerary nipple\n- Decreased body weight\n- 2-3 toe syndactyly\n- Asymmetry of the ears\n- Feeding difficulties\n- Unilateral cryptorchidism\n- obsolete Psychomotor retardation\n- Narrow palpebral fissure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF"
}
] |
exported_images/00022.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Micropenis\n- Facial asymmetry\n- Abnormal repetitive mannerisms\n- Short attention span\n- Anxiety\n- Delayed speech and language development\n- Eczema\n- Cutaneous photosensitivity\n- Striae distensae\n- Tapered finger\n- Intellectual disability\n- Global developmental delay\n- Gait disturbance\n- Large for gestational age\n- Pes planus\n- Truncal obesity\n- Neonatal hypoglycemia\n- Constipation\n- Abdominal pain\n- Incoordination\n- Expressive language delay\n- Highly arched eyebrow\n- Elevated hepatic transaminase\n- Hyposmia\n- Accelerated skeletal maturation\n- Anisocoria\n- Tip-toe gait\n- Tibial torsion\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF"
}
] |
exported_images/00023.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin upper lip vermilion\n- Delayed cranial suture closure\n- Epicanthus\n- Short philtrum\n- Narrow forehead\n- High forehead\n- Overfolded helix\n- Broad nasal tip\n- Anteverted nares\n- Strabismus\n- Deeply set eye\n- Telecanthus\n- Hypermetropia\n- Amblyopia\n- Delayed speech and language development\n- Tapered finger\n- Single umbilical artery\n- Intellectual disability\n- Hypotonia\n- Global developmental delay\n- Hip dysplasia\n- Joint laxity\n- Obesity\n- Patent foramen ovale\n- Pes planus\n- Overlapping toe\n- Frontal bossing\n- Constipation\n- Delayed CNS myelination\n- Difficulty walking\n- Scoliosis\n- Short nose\n- Pes valgus\n- Feeding difficulties in infancy\n- Feeding difficulties\n- Heart murmur\n- Thin corpus callosum\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF"
}
] |
exported_images/00024.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- High palate\n- Thin upper lip vermilion\n- Full cheeks\n- Low anterior hairline\n- Smooth philtrum\n- Short philtrum\n- Narrow forehead\n- Low-set ears\n- Protruding ear\n- Broad nasal tip\n- Anteverted nares\n- Telecanthus\n- Long eyelashes\n- Periorbital fullness\n- Horizontal nystagmus\n- Delayed speech and language development\n- Seizure\n- Global developmental delay\n- Cerebral atrophy\n- Low posterior hairline\n- Hypsarrhythmia\n- Vertical nystagmus\n- Multifocal epileptiform discharges\n- Hypoplasia of the pons\n- Visual fixation instability\n- Tonic seizure\n- Myoclonic seizure\n- Cerebral visual impairment\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23"
}
] |
exported_images/00025.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- High palate\n- Full cheeks\n- Low anterior hairline\n- Smooth philtrum\n- Short philtrum\n- Low-set ears\n- Protruding ear\n- Broad nasal tip\n- Anteverted nares\n- Telecanthus\n- Long eyelashes\n- Periorbital fullness\n- Horizontal nystagmus\n- Delayed speech and language development\n- Cerebellar atrophy\n- Atrial septal defect\n- Cerebral atrophy\n- Low posterior hairline\n- Hypsarrhythmia\n- Vertical nystagmus\n- Atonic seizure\n- Multifocal epileptiform discharges\n- Hypoplasia of the pons\n- Visual fixation instability\n- Tonic seizure\n- Myoclonic seizure\n- Cerebral visual impairment\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23"
}
] |
exported_images/00026.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Aggressive behavior\n- Abnormal repetitive mannerisms\n- Choreoathetosis\n- Hyperreflexia\n- Lower limb spasticity\n- Axial hypotonia\n- Intellectual disability, severe\n- Self-injurious behavior\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58; MRT58"
}
] |
exported_images/00027.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Low anterior hairline\n- Broad nasal tip\n- Anteverted nares\n- Telecanthus\n- Periorbital fullness\n- Autistic behavior\n- Reduced eye contact\n- Absent speech\n- Bicuspid aortic valve\n- Motor deterioration\n- Hypsarrhythmia\n- Supravalvular aortic stenosis\n- Hypoplasia of the pons\n- Infantile spasms\n- Cerebral white matter atrophy\n- Heart murmur\n- Tonic seizure\n- Short corpus callosum\n- Thin corpus callosum\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23"
}
] |
exported_images/00028.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Low anterior hairline\n- Broad nasal tip\n- Anteverted nares\n- Telecanthus\n- Periorbital fullness\n- Motor delay\n- Myoclonus\n- Hypoplasia of the corpus callosum\n- Focal impaired awareness seizure\n- Atonic seizure\n- Interictal epileptiform activity\n- EEG with focal epileptiform discharges\n- Tonic seizure\n- Myoclonic seizure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23; DEE23"
}
] |
exported_images/00029.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Xerostomia\n- High palate\n- Narrow forehead\n- Protruding ear\n- Strabismus\n- Ptosis\n- Diplopia\n- Oligodontia\n- Delayed speech and language development\n- Hypergonadotropic hypogonadism\n- Intellectual disability, mild\n- Dysarthria\n- Neonatal hypotonia\n- Muscle weakness\n- Hypernasal speech\n- Gastroesophageal reflux\n- Poor suck\n- Myopathic facies\n- Neonatal respiratory distress\n- Proximal muscle weakness\n- Neck flexor weakness\n- Feeding difficulties in infancy\n- Overweight\n- Weakness of facial musculature\n- Tube feeding\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22"
}
] |
exported_images/00030.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Cleft palate\n- Ectropion\n- Conical tooth\n- Abnormal hair morphology\n- Nail dysplasia\n- Distichiasis\n- Tooth agenesis\n- Euryblepharon\n- Lagophthalmos\n- Neural tube defect\n- Cleft lip\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Blepharocheilodontic syndrome"
}
] |
exported_images/00031.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Hypertelorism\n- Facial asymmetry\n- Posteriorly rotated ears\n- Overfolded helix\n- Choanal atresia\n- Microphthalmia\n- Upslanted palpebral fissure\n- Blindness\n- Global developmental delay\n- Agenesis of corpus callosum\n- Abnormal heart morphology\n- Tetralogy of Fallot\n- Bilateral cleft lip and palate\n- Meningoencephalocele\n- Opacification of the corneal stroma\n- Teratoma\n- Fused lumbar vertebrae\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Blepharocheilodontic syndrome"
}
] |
exported_images/00032.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Inguinal hernia\n- Hypertelorism\n- Hearing impairment\n- Sensorineural hearing impairment\n- Upslanted palpebral fissure\n- Blue sclerae\n- Joint laxity\n- Umbilical hernia\n- Attention deficit hyperactivity disorder\n- Mild global developmental delay\n- Camptodactyly of finger\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Blepharocheilodontic syndrome"
}
] |
exported_images/00033.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: African\n\nObserved phenotypic features:\n- Vesicoureteral reflux\n- Thin vermilion border\n- Microcephaly\n- Retrognathia\n- Narrow forehead\n- Nystagmus\n- Failure to thrive\n- Atrial septal defect\n- Patent ductus arteriosus\n- Ventriculomegaly\n- EEG abnormality\n- Cavum septum pellucidum\n- Short stature\n- Prominent nasal tip\n- Aplasia/Hypoplasia of the cerebellar vermis\n- Sparse hair\n- Prominent forehead\n- Severe global developmental delay\n- Overhanging nasal tip\n- Narrow palpebral fissure\n- Thin corpus callosum\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MAPKAPK5"
}
] |
exported_images/00034.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Narrow mouth\n- High palate\n- Thin vermilion border\n- Microcephaly\n- Retrognathia\n- Sensorineural hearing impairment\n- Cataract\n- Nystagmus\n- Sclerocornea\n- Syndactyly\n- Hand polydactyly\n- Abnormal heart morphology\n- Hypoplasia of the corpus callosum\n- Uplifted earlobe\n- Severe global developmental delay\n- Double inlet left ventricle\n- Congenital malformation of the great arteries\n- Short palpebral fissure\n- Narrow palpebral fissure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MAPKAPK5"
}
] |
exported_images/00035.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Cryptorchidism\n- Hypogonadotropic hypogonadism\n- Micropenis\n- Bifid uvula\n- Macrocephaly\n- Hypertelorism\n- Hearing impairment\n- Abnormality of the ear\n- Intellectual disability\n- Global developmental delay\n- Stroke\n- Ventriculomegaly\n- Accelerated skeletal maturation\n- Moyamoya phenomenon\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "SIFRIM-HITZ-WEISS SYNDROME; SIHIWES"
}
] |
exported_images/00036.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Macrocephaly\n- Hypertelorism\n- Hearing impairment\n- Low-set ears\n- Cupped ear\n- Intellectual disability\n- Global developmental delay\n- Ventriculomegaly\n- Fused cervical vertebrae\n- Chiari type I malformation\n- Microtia\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "SIFRIM-HITZ-WEISS SYNDROME; SIHIWES"
}
] |
exported_images/00037.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Unknown\n\nObserved phenotypic features:\n- Cryptorchidism\n- Hypospadias\n- Open mouth\n- High palate\n- Long face\n- Oval face\n- Protruding ear\n- Strabismus\n- Ptosis\n- Proptosis\n- Myopia\n- Pectus excavatum\n- Multiple lentigines\n- Joint laxity\n- Atrial septal defect\n- Overlapping toe\n- Moderate global developmental delay\n- Thick vermilion border\n- Camptodactyly of finger\n- Type I diabetes mellitus\n- Long fingers\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51"
}
] |
exported_images/00038.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Cryptorchidism\n- Hypospadias\n- Square face\n- Prominent nasal bridge\n- Strabismus\n- Downslanted palpebral fissures\n- Myopia\n- Specific learning disability\n- Atrial septal defect\n- Moderate global developmental delay\n- Feeding difficulties\n- Camptodactyly of finger\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65; MRT65"
}
] |
exported_images/00039.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Strabismus\n- Visual impairment\n- Ptosis\n- Myopia\n- Hypotonia\n- Intellectual disability, mild\n- Motor delay\n- Attention deficit hyperactivity disorder\n- Moderate sensorineural hearing impairment\n- Feeding difficulties in infancy\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA"
}
] |
exported_images/00040.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Strabismus\n- Autistic behavior\n- Hypotonia\n- Motor delay\n- Ventricular septal defect\n- Pyloric stenosis\n- Intellectual disability, moderate\n- Sleep disturbance\n- Attention deficit hyperactivity disorder\n- Intellectual disability, severe\n- Metopic synostosis\n- Double orifice mitral valve\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA"
}
] |
exported_images/00041.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Hypotonia\n- Motor delay\n- Intellectual disability, moderate\n- Conspicuously happy disposition\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA"
}
] |
exported_images/00042.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Ptosis\n- Myopia\n- Hypotonia\n- Intellectual disability, mild\n- Motor delay\n- Episodic vomiting\n- Attention deficit hyperactivity disorder\n- Glue ear\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA"
}
] |
exported_images/00043.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Cryptorchidism\n- Hypospadias\n- Bifid scrotum\n- Hypoplastic male external genitalia\n- Brachycephaly\n- Bulbous nose\n- Wide nose\n- Proptosis\n- Thick eyebrow\n- Intellectual disability\n- Midface retrusion\n- Exodeviation\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "ELSAHY-WATERS SYNDROME; ESWS"
}
] |
exported_images/00044.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Brachycephaly\n- Hypertelorism\n- Facial asymmetry\n- Bulbous nose\n- Wide nose\n- Proptosis\n- Thick eyebrow\n- Upper eyelid coloboma\n- Intellectual disability\n- Midface retrusion\n- Exodeviation\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "ELSAHY-WATERS SYNDROME; ESWS"
}
] |
exported_images/00045.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Brachycephaly\n- Hypertelorism\n- Facial asymmetry\n- Bulbous nose\n- Wide nose\n- Proptosis\n- Thick eyebrow\n- Upper eyelid coloboma\n- Intellectual disability\n- Midface retrusion\n- Exodeviation\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "ELSAHY-WATERS SYNDROME; ESWS"
}
] |
exported_images/00046.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Multicystic kidney dysplasia\n- Microcephaly\n- Choanal atresia\n- Iris coloboma\n- Global developmental delay\n- Intrauterine growth retardation\n- Ventricular septal defect\n- Patent ductus arteriosus\n- Small nail\n- Ventriculomegaly\n- Clinodactyly of the 5th finger\n- Short stature\n- Anomalous pulmonary venous return\n- Simple ear\n- Thin corpus callosum\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH"
}
] |
exported_images/00047.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Vesicoureteral reflux\n- Furrowed tongue\n- Epicanthus\n- Deeply set eye\n- Atypical behavior\n- Brachydactyly\n- Seizure\n- Hypotonia\n- Cerebellar vermis hypoplasia\n- Hip dysplasia\n- Hypoglycemia\n- Intellectual disability, moderate\n- Temperature instability\n- Bilateral single transverse palmar creases\n- Broad thumb\n- Thin corpus callosum\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH"
}
] |
exported_images/00048.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Open mouth\n- Broad philtrum\n- Triangular face\n- Proptosis\n- Synophrys\n- Autistic behavior\n- Seizure\n- Generalized hypotonia\n- Specific learning disability\n- Frontal bossing\n- Inverted nipples\n- Microtia\n- Large earlobe\n- Prominent forehead\n- Severe global developmental delay\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51"
}
] |
exported_images/00049.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Open mouth\n- Broad philtrum\n- Triangular face\n- Proptosis\n- Synophrys\n- Autistic behavior\n- Seizure\n- Generalized hypotonia\n- Specific learning disability\n- Frontal bossing\n- Inverted nipples\n- Microtia\n- Large earlobe\n- Prominent forehead\n- Severe global developmental delay\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51"
}
] |
exported_images/00050.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Abnormal repetitive mannerisms\n- Hypotonia\n- Failure to thrive\n- Ventriculomegaly\n- Intellectual disability, profound\n- Sleep disturbance\n- Secondary microcephaly\n- Lamellar cataract\n- Feeding difficulties\n- Delayed myelination\n- Infantile spasms\n- Profound global developmental delay\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM"
}
] |
exported_images/00051.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Cataract\n- Autistic behavior\n- Abnormal repetitive mannerisms\n- Irritability\n- Dysphagia\n- Intellectual disability, profound\n- Secondary microcephaly\n- Focal-onset seizure\n- Brain atrophy\n- Profound global developmental delay\n- Arachnoid cyst\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM"
}
] |
exported_images/00052.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Developmental cataract\n- Irritability\n- Hypotonia\n- Failure to thrive\n- Intellectual disability, profound\n- Sleep disturbance\n- Secondary microcephaly\n- Anterior subcapsular cataract\n- Feeding difficulties\n- Delayed myelination\n- Infantile spasms\n- Profound global developmental delay\n- Recurrent hand flapping\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM"
}
] |
exported_images/00053.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Irritability\n- Failure to thrive\n- Dysphagia\n- Intellectual disability, profound\n- Infantile spasms\n- Profound global developmental delay\n- Tonic seizure\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM"
}
] |
exported_images/00054.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Autistic behavior\n- Irritability\n- Gastroesophageal reflux\n- Febrile seizure (within the age range of 3 months to 6 years)\n- Abnormal cerebral white matter morphology\n- Obstructive sleep apnea\n- Intellectual disability, severe\n- Severe global developmental delay\n- Feeding difficulties\n- Hyperintensity of cerebral white matter on MRI\n- Nocturnal seizures\n- Recurrent hand flapping\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM"
}
] |
exported_images/00055.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin upper lip vermilion\n- Hypertelorism\n- Hypotonia\n- Cerebellar atrophy\n- Reduced tendon reflexes\n- Laryngomalacia\n- Anal atresia\n- Limb hypertonia\n- Thoracic scoliosis\n- Corpus callosum atrophy\n- Axial hypotonia\n- Severe global developmental delay\n- Abnormal sixth cranial nerve morphology\n- Multifocal seizures\n- Cerebral visual impairment\n- Hippocampal sclerosis\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"
}
] |
exported_images/00056.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Gingival overgrowth\n- Retrognathia\n- Short philtrum\n- Deeply set eye\n- Abnormal electroretinogram\n- Abnormality of visual evoked potentials\n- Delayed speech and language development\n- Prominent fingertip pads\n- Global developmental delay\n- Cerebellar atrophy\n- Reduced tendon reflexes\n- Cerebral atrophy\n- Limb hypertonia\n- Scoliosis\n- Secondary microcephaly\n- Corpus callosum atrophy\n- Axial hypotonia\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"
}
] |
exported_images/00057.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Gingival overgrowth\n- Retrognathia\n- Short philtrum\n- Deeply set eye\n- Abnormal electroretinogram\n- Abnormality of visual evoked potentials\n- Delayed speech and language development\n- Prominent fingertip pads\n- Global developmental delay\n- Cerebellar atrophy\n- Reduced tendon reflexes\n- Cerebral atrophy\n- Limb hypertonia\n- Scoliosis\n- Secondary microcephaly\n- Corpus callosum atrophy\n- Axial hypotonia\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"
}
] |
exported_images/00058.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Deeply set eye\n- Delayed speech and language development\n- Mild global developmental delay\n- Moderate global developmental delay\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"
}
] |
exported_images/00059.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Microcephaly\n- Brachydactyly\n- Seizure\n- Hypotonia\n- Abnormal cerebellum morphology\n- Plagiocephaly\n- Joint laxity\n- Mitral regurgitation\n- Aortic regurgitation\n- Short foot\n- Ventriculomegaly\n- Enlarged cisterna magna\n- Intellectual disability, moderate\n- Abnormal cerebral white matter morphology\n- Scoliosis\n- Short palm\n- Tricuspid regurgitation\n- Bilateral single transverse palmar creases\n- Feeding difficulties in infancy\n- Pulmonary insufficiency\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48"
}
] |
exported_images/00060.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Microcephaly\n- Hyperactivity\n- Eczema\n- Intellectual disability, mild\n- Abnormal cerebellum morphology\n- Hypoplasia of the corpus callosum\n- Ventriculomegaly\n- Enlarged cisterna magna\n- Intellectual disability, moderate\n- Recurrent pneumonia\n- Feeding difficulties in infancy\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48"
}
] |
exported_images/00061.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Hypospadias\n- Visual impairment\n- Abnormal repetitive mannerisms\n- Hypotonia\n- Ventricular septal defect\n- Hypoplasia of the corpus callosum\n- Polymicrogyria\n- Sleep disturbance\n- Congenital sensorineural hearing impairment\n- Abnormality of the palmar creases\n- Intellectual disability, severe\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48"
}
] |
exported_images/00062.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Macrocephaly\n- Intellectual disability, moderate\n- Abnormal cerebral white matter morphology\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48"
}
] |
exported_images/00063.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: African\n\nObserved phenotypic features:\n- Macrocephaly\n- Recurrent otitis media\n- Autism\n- Abnormal repetitive mannerisms\n- Eczema\n- Intellectual disability\n- Seizure\n- Hypotonia\n- Absent speech\n- Abnormal cerebral white matter morphology\n- Increased body weight\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48"
}
] |
exported_images/00064.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin vermilion border\n- Microcephaly\n- Long face\n- Retrognathia\n- Coarse facial features\n- Mandibular prognathia\n- Broad forehead\n- Wide nasal bridge\n- Strabismus\n- Telecanthus\n- Proptosis\n- Thick eyebrow\n- Cutis laxa\n- Prominent superficial veins\n- Limited elbow extension\n- Small for gestational age\n- Short toe\n- Sandal gap\n- Highly arched eyebrow\n- Sclerosis of skull base\n- Hip dislocation\n- Severe short stature\n- Decreased body weight\n- Deep palmar crease\n- Excessive wrinkled skin\n- Lipodystrophy\n- Short finger\n- Severe global developmental delay\n- Broad chin\n- Tall chin\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD"
}
] |
exported_images/00065.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin vermilion border\n- Microcephaly\n- Long face\n- Retrognathia\n- Coarse facial features\n- Mandibular prognathia\n- Broad forehead\n- Wide nasal bridge\n- Strabismus\n- Telecanthus\n- Proptosis\n- Thick eyebrow\n- Cutis laxa\n- Prominent superficial veins\n- Limited elbow extension\n- Small for gestational age\n- Short toe\n- Sandal gap\n- Highly arched eyebrow\n- Sclerosis of skull base\n- Hip dislocation\n- Severe short stature\n- Decreased body weight\n- Deep palmar crease\n- Excessive wrinkled skin\n- Lipodystrophy\n- Short finger\n- Severe global developmental delay\n- Broad chin\n- Tall chin\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD"
}
] |
exported_images/00066.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin vermilion border\n- Microcephaly\n- Long face\n- Retrognathia\n- Coarse facial features\n- Mandibular prognathia\n- Broad forehead\n- Wide nasal bridge\n- Strabismus\n- Telecanthus\n- Proptosis\n- Thick eyebrow\n- Cutis laxa\n- Prominent superficial veins\n- Limited elbow extension\n- Small for gestational age\n- Short toe\n- Sandal gap\n- Highly arched eyebrow\n- Sclerosis of skull base\n- Hip dislocation\n- Severe short stature\n- Decreased body weight\n- Deep palmar crease\n- Excessive wrinkled skin\n- Lipodystrophy\n- Short finger\n- Severe global developmental delay\n- Broad chin\n- Tall chin\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD"
}
] |
exported_images/00067.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin vermilion border\n- Large fontanelles\n- Microcephaly\n- Retrognathia\n- Long philtrum\n- Telecanthus\n- Brachydactyly\n- Patent foramen ovale\n- Downturned corners of mouth\n- Symphalangism of the 4th finger\n- Symphalangism of the 5th finger\n- Progeroid facial appearance\n- Excessive wrinkled skin\n- Short finger\n- Mild global developmental delay\n- Clinodactyly\n- Fetal nuchal edema\n- Premature sagging cheeks\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD"
}
] |
exported_images/00068.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin vermilion border\n- Large fontanelles\n- Microcephaly\n- Retrognathia\n- Long philtrum\n- Telecanthus\n- Brachydactyly\n- Patent foramen ovale\n- Downturned corners of mouth\n- Symphalangism of the 4th finger\n- Symphalangism of the 5th finger\n- Progeroid facial appearance\n- Excessive wrinkled skin\n- Short finger\n- Mild global developmental delay\n- Clinodactyly\n- Fetal nuchal edema\n- Premature sagging cheeks\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD"
}
] |
exported_images/00069.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Thin vermilion border\n- Microcephaly\n- Long face\n- Retrognathia\n- Coarse facial features\n- Mandibular prognathia\n- Broad forehead\n- Wide nasal bridge\n- Strabismus\n- Telecanthus\n- Proptosis\n- Thick eyebrow\n- Cutis laxa\n- Prominent superficial veins\n- Limited elbow extension\n- Small for gestational age\n- Short toe\n- Sandal gap\n- Highly arched eyebrow\n- Sclerosis of skull base\n- Hip dislocation\n- Severe short stature\n- Decreased body weight\n- Deep palmar crease\n- Excessive wrinkled skin\n- Lipodystrophy\n- Short finger\n- Severe global developmental delay\n- Broad chin\n- Tall chin\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD"
}
] |
exported_images/00070.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Micropenis\n- Hypertelorism\n- Long philtrum\n- Low-set ears\n- Wide nasal bridge\n- Anteverted nares\n- Seizure\n- Limited elbow movement\n- Short long bone\n- Short nose\n- Short stature\n- Depressed nasal bridge\n- Short humerus\n- Rhizomelia\n- Limb undergrowth\n- Hypoplastic nasal bone\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Omodysplasia"
}
] |
exported_images/00071.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Hydrocephalus\n- Seizure\n- Hypotonia\n- Spasticity\n- Global developmental delay\n- Dandy-Walker malformation\n- Cerebellar vermis hypoplasia\n- Failure to thrive\n- Enlarged cisterna magna\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "KCTD3"
}
] |
exported_images/00072.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Tall stature\n- Thin upper lip vermilion\n- Macrocephaly\n- Hypertelorism\n- Long philtrum\n- Wide nasal bridge\n- Broad nasal tip\n- Abnormality of the ear\n- Delayed speech and language development\n- Delayed gross motor development\n- Language impairment\n- Increased body weight\n- Poor fine motor coordination\n- Poor gross motor coordination\n- Abnormality of the palpebral fissures\n- High anterior hairline\n- Thick nasal alae\n- Delayed fine motor development\n- Intellectual disability, severe\n- Narrow jaw\n- Thin eyebrow\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF"
}
] |
exported_images/00073.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Thin upper lip vermilion\n- Hypertelorism\n- Long philtrum\n- Wide nasal bridge\n- Broad nasal tip\n- Abnormality of the ear\n- Autistic behavior\n- Delayed gross motor development\n- Language impairment\n- Poor fine motor coordination\n- Poor gross motor coordination\n- Abnormality of the palpebral fissures\n- Thick nasal alae\n- Delayed fine motor development\n- Intellectual disability, severe\n- Narrow jaw\n- Thin eyebrow\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF"
}
] |
exported_images/00074.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: African\n\nObserved phenotypic features:\n- Tall stature\n- Thin upper lip vermilion\n- Macrocephaly\n- Hypertelorism\n- Wide nasal bridge\n- Broad nasal tip\n- Abnormality of the ear\n- Delayed speech and language development\n- Tapered finger\n- Pes planus\n- Delayed gross motor development\n- Intellectual disability, moderate\n- Clinodactyly of the 5th finger\n- Increased body weight\n- Abnormality of the palpebral fissures\n- High anterior hairline\n- Thick nasal alae\n- Delayed fine motor development\n- Narrow jaw\n- Thin eyebrow\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF"
}
] |
exported_images/00075.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Seizure\n- Hypotonia\n- Spasticity\n- Global developmental delay\n- Dandy-Walker malformation\n- Cerebellar vermis hypoplasia\n- Cerebellar vermis atrophy\n- Periventricular cysts\n- Posterior fossa cyst\n- Encephalomalacia\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "KCTD3"
}
] |
exported_images/00076.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Multicystic kidney dysplasia\n- Abnormality of vision\n- Seizure\n- Hypotonia\n- Global developmental delay\n- Dandy-Walker malformation\n- Cerebellar vermis hypoplasia\n- Cerebellar hypoplasia\n- Patent foramen ovale\n- Myopathic facies\n- Ventriculomegaly\n- Hypsarrhythmia\n- Hip dislocation\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "KCTD3"
}
] |
exported_images/00077.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Hydrocephalus\n- Seizure\n- Hypotonia\n- Global developmental delay\n- Myopathic facies\n- Ventriculomegaly\n- Enlarged cisterna magna\n- Cavum septum pellucidum\n- Thin corpus callosum\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "KCTD3"
}
] |
exported_images/00078.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Epicanthus\n- Low-set ears\n- Wide nasal bridge\n- Short neck\n- Microphthalmia\n- Blepharophimosis\n- Upslanted palpebral fissure\n- Increased body weight\n- Intellectual disability, borderline\n- Localized skin lesion\n- Flat face\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Skin creases, congenital symmetric circumferential"
}
] |
exported_images/00079.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Epicanthus\n- Low-set ears\n- Wide nasal bridge\n- Short neck\n- Microphthalmia\n- Blepharophimosis\n- Upslanted palpebral fissure\n- Increased body weight\n- Intellectual disability, borderline\n- Localized skin lesion\n- Flat face\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Skin creases, congenital symmetric circumferential"
}
] |
exported_images/00080.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Epicanthus\n- Low-set ears\n- Wide nasal bridge\n- Short neck\n- Microphthalmia\n- Blepharophimosis\n- Upslanted palpebral fissure\n- Increased body weight\n- Intellectual disability, borderline\n- Localized skin lesion\n- Flat face\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Skin creases, congenital symmetric circumferential"
}
] |
exported_images/00081.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Epicanthus\n- Low-set ears\n- Wide nasal bridge\n- Short neck\n- Microphthalmia\n- Blepharophimosis\n- Upslanted palpebral fissure\n- Increased body weight\n- Intellectual disability, borderline\n- Localized skin lesion\n- Flat face\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "Skin creases, congenital symmetric circumferential"
}
] |
exported_images/00082.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Open mouth\n- Gingival overgrowth\n- Underdeveloped nasal alae\n- Proptosis\n- Spastic tetraparesis\n- Polyhydramnios\n- Scoliosis\n- Short stature\n- Decreased body weight\n- Absence of subcutaneous fat\n- Lipodystrophy\n- Severe global developmental delay\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "KEPPEN-LUBINSKY SYNDROME; KPLBS"
}
] |
exported_images/00083.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Global developmental delay\n- Respiratory distress\n- Ventriculomegaly\n- Opisthotonus\n- Febrile seizure (within the age range of 3 months to 6 years)\n- Upper airway obstruction\n- Reduced subcutaneous adipose tissue\n- Short stature\n- Decreased body weight\n- Narrow naris\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "KEPPEN-LUBINSKY SYNDROME; KPLBS"
}
] |
exported_images/00084.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Cryptorchidism\n- Ambiguous genitalia\n- Micrognathia\n- Myopia\n- Hypotelorism\n- Autism\n- Penoscrotal hypospadias\n- Seizure\n- Global developmental delay\n- Joint laxity\n- Intrauterine growth retardation\n- Small for gestational age\n- Gastroesophageal reflux\n- Language impairment\n- Obstructive sleep apnea\n- Scaphocephaly\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD"
}
] |
exported_images/00085.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: European\n\nObserved phenotypic features:\n- Small scrotum\n- Micropenis\n- Microcephaly\n- Micrognathia\n- Cataract\n- Hypotelorism\n- Short diaphyses\n- Large hands\n- Intellectual disability, mild\n- Intrauterine growth retardation\n- Small for gestational age\n- Broad foot\n- Coxa valga\n- Bowing of the legs\n- Skeletal muscle hypertrophy\n- Advanced ossification of the hand bones\n- Short stature\n- Short lower limbs\n- Rhizomelia\n- Primary microcephaly\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD"
}
] |
exported_images/00086.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: European\n\nObserved phenotypic features:\n- Cleft palate\n- Microcephaly\n- Micrognathia\n- Hypotelorism\n- Global developmental delay\n- Cerebellar atrophy\n- Joint laxity\n- Intrauterine growth retardation\n- Delayed CNS myelination\n- Skeletal muscle hypertrophy\n- Short stature\n- Decreased body weight\n- Postnatal growth retardation\n- Rhizomelia\n- Feeding difficulties\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD"
}
] |
exported_images/00087.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Polyuria\n- Aggressive behavior\n- Seizure\n- Ataxia\n- Hypotonia\n- Delayed gross motor development\n- Sleep disturbance\n- Expressive language delay\n- Short stature\n- Intellectual disability, severe\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46; MRT46"
}
] |
exported_images/00088.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Aggressive behavior\n- Seizure\n- Large for gestational age\n- Delayed gross motor development\n- Expressive language delay\n- Short stature\n- Intellectual disability, severe\n- Self-injurious behavior\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46; MRT46"
}
] |
exported_images/00089.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Strabismus\n- Irritability\n- Seizure\n- Slurred speech\n- Large for gestational age\n- Pes planus\n- Delayed gross motor development\n- Expressive language delay\n- Short stature\n- Intellectual disability, severe\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46; MRT46"
}
] |
exported_images/00090.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Macrocephaly\n- Macrotia\n- Protruding ear\n- Hypotonia\n- Pes planus\n- Ventriculomegaly\n- Delayed gross motor development\n- Expressive language delay\n- Delayed fine motor development\n- Intellectual disability, severe\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46; MRT46"
}
] |
exported_images/00091.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Tall stature\n- Abnormality of the genitourinary system\n- Macrocephaly\n- Overfolded helix\n- Anteverted nares\n- Upslanted palpebral fissure\n- Hematuria\n- Reduced eye contact\n- Jaundice\n- Cutis marmorata\n- Hypotonia\n- Failure to thrive\n- Hypoplasia of the corpus callosum\n- Ventriculomegaly\n- Delayed gross motor development\n- Delayed fine motor development\n- Metopic synostosis\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD"
}
] |
exported_images/00092.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Tall stature\n- Abnormality of the genitourinary system\n- Macrocephaly\n- Overfolded helix\n- Anteverted nares\n- Upslanted palpebral fissure\n- Hematuria\n- Reduced eye contact\n- Jaundice\n- Cutis marmorata\n- Hypotonia\n- Failure to thrive\n- Hypoplasia of the corpus callosum\n- Ventriculomegaly\n- Delayed gross motor development\n- Delayed fine motor development\n- Metopic synostosis\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD"
}
] |
exported_images/00093.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Tall stature\n- Abnormality of the genitourinary system\n- Macrocephaly\n- Overfolded helix\n- Anteverted nares\n- Upslanted palpebral fissure\n- Hematuria\n- Reduced eye contact\n- Jaundice\n- Cutis marmorata\n- Hypotonia\n- Failure to thrive\n- Hypoplasia of the corpus callosum\n- Ventriculomegaly\n- Delayed gross motor development\n- Delayed fine motor development\n- Metopic synostosis\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD"
}
] |
exported_images/00094.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Tall stature\n- Abnormality of the genitourinary system\n- Macrocephaly\n- Overfolded helix\n- Anteverted nares\n- Upslanted palpebral fissure\n- Hematuria\n- Reduced eye contact\n- Jaundice\n- Cutis marmorata\n- Hypotonia\n- Failure to thrive\n- Hypoplasia of the corpus callosum\n- Ventriculomegaly\n- Delayed gross motor development\n- Delayed fine motor development\n- Metopic synostosis\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD"
}
] |
exported_images/00095.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Others\n\nObserved phenotypic features:\n- Tall stature\n- Abnormality of the genitourinary system\n- Macrocephaly\n- Overfolded helix\n- Anteverted nares\n- Upslanted palpebral fissure\n- Hematuria\n- Reduced eye contact\n- Jaundice\n- Cutis marmorata\n- Hypotonia\n- Failure to thrive\n- Hypoplasia of the corpus callosum\n- Ventriculomegaly\n- Delayed gross motor development\n- Delayed fine motor development\n- Metopic synostosis\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD"
}
] |
exported_images/00096.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: male\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Proptosis\n- Mild global developmental delay\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "PROLIDASE DEFICIENCY"
}
] |
exported_images/00097.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Jaundice\n- Hypotonia\n- Splenomegaly\n- Diarrhea\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "PROLIDASE DEFICIENCY"
}
] |
exported_images/00098.png
|
[
{
"from": "human",
"value": "<image>\nYou are a clinical decision support system for rare genetic syndromes.\n\nPatient information:\n- Sex: female\n- Ethnicity: Asian\n\nObserved phenotypic features:\n- Jaundice\n- Hypotonia\n- Splenomegaly\n- Diarrhea\n\nQuestion:\nWhat is the most likely diagnosis?"
},
{
"from": "gpt",
"value": "PROLIDASE DEFICIENCY"
}
] |
exported_images/00099.png
|
End of preview.