| {"0": "Micromelia", "1": "Postural tremor", "2": "Disproportionate short stature", "3": "Disproportionate short limb short stature", "4": "Distal lower limb muscle weakness", "5": "Coxa vara", "6": "Abnormal acetabulum morphology", "7": "Abnormal iliac wing morphology", "8": "Wormian bones", "9": "Abnormality of the musculature of the lower limbs", "10": "Inverted nipples", "11": "Muscle stiffness", "12": "Abnormal erythrocyte enzyme level", "13": "Centrally nucleated skeletal muscle fibers", "14": "Aplasia hypoplasia involving the vertebral column", "15": "Abnormal epiphyseal ossification", "16": "Reticulocytopenia", "17": "Axonal degeneration", "18": "Aplasia hypoplasia of the optic nerve", "19": "Positional foot deformity", "20": "Schizophrenia", "21": "Retinal detachment", "22": "Limb joint contracture", "23": "Aplasia hypoplasia affecting the fundus", "24": "Metaphyseal dysplasia", "25": "Abnormality of the thenar eminence", "26": "Thin upper lip vermilion", "27": "Sensorimotor neuropathy", "28": "Abnormality of pain sensation", "29": "Adenocarcinoma of the intestines", "30": "Ventricular arrhythmia", "31": "Peripheral demyelination", "32": "Increased mean corpuscular volume", "33": "Phenotypic variability", "34": "Dysdiadochokinesis", "35": "Abnormal choroid morphology", "36": "Contractures of the joints of the upper limbs", "37": "Abnormality of corneal size", "38": "Areflexia of lower limbs", "39": "Skin rash", "40": "Persistence of hemoglobin f", "41": "Duplication of thumb phalanx", "42": "Meningitis", "43": "Cns demyelination", "44": "Microcornea", "45": "Erythroid hypoplasia", "46": "Dermal atrophy", "47": "Abnormal corneal epithelium morphology", "48": "Malignant genitourinary tract tumor", "49": "Relative macrocephaly"} |