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What are the treatments for Hashimoto's encephalitis ? | How might Hashimoto's encephalitis be treated? Medical management of Hashimoto's encephalitis (HE) usually involves corticosteroids and treatment of thyroid abnormalities (if present). The optimal dose of oral steroids is not known. Most patients with HE respond to steroid therapy. Symptoms typically improve or resolve... | |
What is (are) L-arginine:glycine amidinotransferase deficiency ? | L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic beh... | |
What are the symptoms of L-arginine:glycine amidinotransferase deficiency ? | What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Visceral steatosis ? | What are the signs and symptoms of Visceral steatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Visceral steatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | |
What are the symptoms of Lopes Gorlin syndrome ? | What are the signs and symptoms of Lopes Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lopes Gorlin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
What are the symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy ? | What are the signs and symptoms of Childhood-onset cerebral X-linked adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood-onset cerebral X-linked adrenoleukodystrophy. If the information is available, the table below includes how often the symptom is seen in... | |
What are the symptoms of Lipase deficiency combined ? | What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | |
What are the symptoms of Familial tumoral calcinosis ? | What are the signs and symptoms of Familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the symptoms of Pontocerebellar hypoplasia type 5 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What is (are) Neuronal ceroid lipofuscinosis 10 ? | Neuronal ceroid lipofuscinosis 10 (CLN10-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in ... | |
What are the symptoms of Neuronal ceroid lipofuscinosis 10 ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis 10 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 10 . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What is (are) Syndactyly type 3 ? | Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the... | |
What are the symptoms of Syndactyly type 3 ? | What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | |
Is Syndactyly type 3 inherited ? | How is syndactyly type 3 inherited? Syndactyly type 3 has been shown to be inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene is sufficient to cause the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in ... | |
What are the symptoms of Spinocerebellar degeneration and corneal dystrophy ? | What are the signs and symptoms of Spinocerebellar degeneration and corneal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar degeneration and corneal dystrophy. If the information is available, the table below includes how often the symptom is seen in people ... | |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 5 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 5. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Familial juvenile hyperuricaemic nephropathy ? | Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the ... | |
What are the symptoms of Familial juvenile hyperuricaemic nephropathy ? | What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What are the symptoms of Hoyeraal Hreidarsson syndrome ? | What are the signs and symptoms of Hoyeraal Hreidarsson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hoyeraal Hreidarsson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What are the symptoms of Ichthyosis follicularis atrichia photophobia syndrome ? | What are the signs and symptoms of Ichthyosis follicularis atrichia photophobia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis follicularis atrichia photophobia syndrome. If the information is available, the table below includes how often the symptom is seen in p... | |
What is (are) Chromosome 9 inversion ? | Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the long arm. The p arm is al... | |
What is (are) Emery-Dreifuss muscular dystrophy, dominant type ? | null | |
What is (are) Chordoma ? | A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chor... | |
What are the symptoms of Chordoma ? | What are the signs and symptoms of Chordoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chordoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the d... | |
What are the treatments for Chordoma ? | How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tum... | |
What are the symptoms of Succinic acidemia ? | What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | |
What are the symptoms of Fallot complex with severe mental and growth retardation ? | What are the signs and symptoms of Fallot complex with severe mental and growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Fallot complex with severe mental and growth retardation. If the information is available, the table below includes how often the symptom is see... | |
What is (are) Brown syndrome ? | Brown syndrome is an eye disorder characterized by abnormalities in the eye's ability to move. Specifically, the ability to look up and in is affected by a problem in the superior oblique muscle/tendon. The condition may be present at birth (congenital) or it may develop following surgery or as a result of inflammation... | |
What are the treatments for Brown syndrome ? | How might Brown syndrome be treated? Treatment recommendations vary depending on the cause and severity of the condition. In mild cases, a watch and wait approach may be sufficient. Visual acuity should be monitored. First line therapy usually involves less invasive options such as nonsteroidal anti-inflammatory medica... | |
What are the symptoms of Craniofacial dyssynostosis ? | What are the signs and symptoms of Craniofacial dyssynostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniofacial dyssynostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | |
What is (are) Hereditary hemorrhagic telangiectasia ? | Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The... | |
What are the symptoms of Hereditary hemorrhagic telangiectasia ? | What are the signs and symptoms of Hereditary hemorrhagic telangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the treatments for Hereditary hemorrhagic telangiectasia ? | Can hereditary hemorrhagic telangiectasia (HHT) be treated? Yes. Although there is not yet a way to prevent the telangiectases or AVMs associated with HHT, most can be treated once they occur. Management includes surveillance for undiagnosed AVMs and treatment for identified complications such as nosebleeds, gastrointe... | |
What is (are) Lambert Eaton myasthenic syndrome ? | Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated... | |
What are the symptoms of Lambert Eaton myasthenic syndrome ? | What are the symptoms of Lambert-Eaton myasthenic syndrome? Signs and symptoms of Lambert-Eaton myasthenic syndrome may include: Weakness or loss of movement that varies in severity: Difficulty climbing stairs Difficulty lifting objects Need to use hands to arise from sitting or lying positions Difficulty talking Diffi... | |
What causes Lambert Eaton myasthenic syndrome ? | What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the b... | |
What are the treatments for Lambert Eaton myasthenic syndrome ? | How might Lambert-Eaton myasthenic syndrome be treated? Medications and therapies used to treat Lambert-Eaton myasthenic syndrome may include anticholinesterase agents (e.g., Pyridostigmine), guanidine hydrochloride, plasmapheresis (where blood plasma is removed and replaced with fluid, protein, or donated plasma) or I... | |
What is (are) Spinocerebellar ataxia autosomal recessive 7 ? | Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cer... | |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 7 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What are the symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ? | What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. If the information is available,... | |
What are the symptoms of PEHO syndrome ? | What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What is (are) Mucopolysaccharidosis type IVA ? | Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progress... | |
What are the symptoms of Mucopolysaccharidosis type IVA ? | What are the signs and symptoms of Mucopolysaccharidosis type IVA? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IVA. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Marfan syndrome ? | Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the... | |
What are the symptoms of Marfan syndrome ? | What are the signs and symptoms of Marfan syndrome? The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common fea... | |
Is Marfan syndrome inherited ? | How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by c... | |
What is (are) Chromosome 4q deletion ? | Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of t... | |
What are the symptoms of Chromosome 4q deletion ? | What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depre... | |
What causes Chromosome 4q deletion ? | What causes chromosome 4q deletion? People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. ... | |
Is Chromosome 4q deletion inherited ? | How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this delet... | |
How to diagnose Chromosome 4q deletion ? | How is chromosome 4q deletion diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laborato... | |
What are the treatments for Chromosome 4q deletion ? | How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, ba... | |
What are the symptoms of Midphalangeal hair ? | What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | |
What are the symptoms of Microcephaly deafness syndrome ? | What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Plasma cell leukemia ? | Plasma cell leukemia (PCL) is a rare and aggressive form of multiple myeloma that involves high levels of plasma cells circulating in the peripheral blood. The signs and symptoms of PCL include aggressive clinical features, such as extramedullary disease, bone marrow failure, advanced stage disease and expression of di... | |
What are the symptoms of Agammaglobulinemia, non-Bruton type ? | What are the signs and symptoms of Agammaglobulinemia, non-Bruton type? The Human Phenotype Ontology provides the following list of signs and symptoms for Agammaglobulinemia, non-Bruton type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What are the symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease ? | What are the signs and symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sclerosis similar to Pelizaeus-Merzbacher disease. If the information is available, the table below includes how often the symptom is... | |
What is (are) Inclusion body myositis ? | Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects ... | |
What are the symptoms of Inclusion body myositis ? | What are the signs and symptoms of Inclusion body myositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What are the symptoms of Cataract microcornea syndrome ? | What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Brody myopathy ? | Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases ... | |
What are the symptoms of Brody myopathy ? | What are the signs and symptoms of Brody myopathy? Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. Th... | |
What causes Brody myopathy ? | What causes Brody disease? Brody disease can be caused by mutations in the gene ATP2A1. In general, genes contain the information needed to make functional molecules called proteins. These proteins are required for our bodies cells (and ultimately tissues, like our muscles) to work correctly. Gene mutations can result ... | |
How to diagnose Brody myopathy ? | How is Brody disease diagnosed? Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A... | |
What are the treatments for Brody myopathy ? | How might Brody disease be treated? There have been case reports describing treatment of Brody disease with the muscle relaxant, dantrolene and with calcium channel blockers with varying success. | |
What is (are) X-linked sideroblastic anemia ? | X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglob... | |
What are the symptoms of X-linked sideroblastic anemia ? | What are the signs and symptoms of X-linked sideroblastic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked sideroblastic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Duchenne muscular dystrophy ? | Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne... | |
What are the symptoms of Duchenne muscular dystrophy ? | What are the signs and symptoms of Duchenne muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Duchenne muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
Is Duchenne muscular dystrophy inherited ? | How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one... | |
How to diagnose Duchenne muscular dystrophy ? | How is Duchenne muscular dystrophy (DMD) diagnosed? Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (close... | |
What are the treatments for Duchenne muscular dystrophy ? | How might Duchenne muscular dystrophy be treated? There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life. Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). This can be treated with medi... | |
What is (are) Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ? | Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual di... | |
What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ? | What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome. If the information is available, the table below includes how often ... | |
What is (are) Oculodentodigital dysplasia ? | Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A ... | |
What are the symptoms of Oculodentodigital dysplasia ? | What are the signs and symptoms of Oculodentodigital dysplasia? Individuals with oculodentodigital dysplasia commonly have small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. They also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, ... | |
What are the symptoms of Merlob Grunebaum Reisner syndrome ? | What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Ectopia pupillae ? | What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | |
What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ? | What are the signs and symptoms of Achondroplasia and Swiss type agammaglobulinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with... | |
What is (are) Desmoplastic infantile ganglioglioma ? | Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, ra... | |
What are the symptoms of Desmoplastic infantile ganglioglioma ? | What signs and symptoms are associated with desmoplastic infantile gangliomas? Most infants with DIGs do not have seizures; however, they usually have a bulging fontanelle, rapid head growth, sunset sign, and vomiting. | |
How to diagnose Desmoplastic infantile ganglioglioma ? | How are desmoplastic infantile gangliomas diagnosed? In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor. | |
What are the treatments for Desmoplastic infantile ganglioglioma ? | What treatment is available for desmoplastic infantile gangliomas? Surgical resection (removal of the area of the brain with the tumor) has been the standard treatment reported in the medical literature. The size of the resection is probably based on the size of the tumor, although the extent of the resection is not do... | |
What are the symptoms of Axial osteomalacia ? | What are the signs and symptoms of Axial osteomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Axial osteomalacia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | |
What are the symptoms of Spinal muscular atrophy type 3 ? | What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. If the information is available, the table below includes how ofte... | |
What are the symptoms of Viljoen Kallis Voges syndrome ? | What are the signs and symptoms of Viljoen Kallis Voges syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Viljoen Kallis Voges syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What are the symptoms of Cobb syndrome ? | What are the signs and symptoms of Cobb syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cobb syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | |
What is (are) Duane syndrome type 3 ? | Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most case... | |
What are the symptoms of Duane syndrome type 3 ? | What are the signs and symptoms of Duane syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
What is (are) X-linked dominant scapuloperoneal myopathy ? | X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some ... | |
What are the symptoms of X-linked dominant scapuloperoneal myopathy ? | What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What causes X-linked dominant scapuloperoneal myopathy ? | What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy. | |
What are the treatments for X-linked dominant scapuloperoneal myopathy ? | How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises. | |
What are the symptoms of Panhypopituitarism X-linked ? | What are the signs and symptoms of Panhypopituitarism X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Panhypopituitarism X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the symptoms of Haim-Munk syndrome ? | What are the signs and symptoms of Haim-Munk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Haim-Munk syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | |
What is (are) Ocular cicatricial pemphigoid ? | Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drain... | |
What are the symptoms of Ocular cicatricial pemphigoid ? | What are the signs and symptoms of Ocular cicatricial pemphigoid? The Human Phenotype Ontology provides the following list of signs and symptoms for Ocular cicatricial pemphigoid. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What is (are) Progressive deafness with stapes fixation ? | Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated,... | |
What are the symptoms of Progressive deafness with stapes fixation ? | What are the signs and symptoms of Progressive deafness with stapes fixation? Deafness, progressive with stapes fixation is characterized by bilateral hearing loss - either conductive or mixed - and stapes fixation. Hearing loss typically begins between ages 8 and 24. The Human Phenotype Ontology provides the following... |
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