{"0": "Joint contracture of the hand", "1": "Red eye", "2": "Retinal dysplasia", "3": "Abnormal muscle fiber morphology", "4": "Chorioretinal dysplasia", "5": "Dyskinesia", "6": "Polymicrogyria", "7": "Contractures of the joints of the upper limbs", "8": "Abnormality of pulmonary circulation", "9": "Abnormality of the phalanges of the toes", "10": "Areflexia of lower limbs", "11": "Elevated pulmonary artery pressure", "12": "Severe muscular hypotonia", "13": "Abnormal peripheral nervous system physiology", "14": "Sensorimotor neuropathy", "15": "Disproportionate short stature", "16": "Muscle stiffness", "17": "Central scotoma", "18": "Submucous cleft of soft and hard palate", "19": "Abnormal circulating carbohydrate concentration", "20": "Paresthesia", "21": "Rigidity", "22": "Increased serum pyruvate", "23": "Optic disc pallor", "24": "Abnormal vascular physiology", "25": "Unsteady gait", "26": "Absent septum pellucidum", "27": "Abnormal conjunctiva morphology", "28": "Aplasia hypoplasia of the skin", "29": "Disproportionate short limb short stature", "30": "Cerebral visual impairment", "31": "Abnormal circulating albumin concentration", "32": "Impaired proprioception", "33": "Peripheral axonal neuropathy", "34": "Confusion", "35": "Decreased absent ankle reflexes", "36": "Abnormal cortical gyration", "37": "Inability to walk", "38": "Proportionate short stature", "39": "Bulbar signs", "40": "Underdeveloped supraorbital ridges", "41": "Abnormal exteroceptive sensation", "42": "Abnormal metatarsal morphology", "43": "Dermal atrophy", "44": "Retrognathia", "45": "Myoclonus", "46": "Thoracic kyphosis", "47": "Impaired vibratory sensation", "48": "Limb joint contracture", "49": "Decreased number of peripheral myelinated nerve fibers"}