| {"0": "Sensory neuropathy", "1": "Contractures of the joints of the upper limbs", "2": "Toe walking", "3": "Abnormal lower limb bone morphology", "4": "Joint contracture of the hand", "5": "Biliary tract abnormality", "6": "Action tremor", "7": "Abnormal peripheral nervous system physiology", "8": "Abnormal biliary tract morphology", "9": "Rhizomelia", "10": "Disproportionate short stature", "11": "Abnormality of pulmonary circulation", "12": "Abnormal nerve conduction velocity", "13": "Heterogeneous", "14": "Pes cavus", "15": "Ectrodactyly", "16": "Abnormal csf protein level", "17": "Arthritis", "18": "Proportionate short stature", "19": "Abnormality of peripheral nerves", "20": "Elevated pulmonary artery pressure", "21": "Abnormality of the tarsal bones", "22": "Abnormal metatarsal morphology", "23": "Disproportionate short limb short stature", "24": "Abnormal circulating amino acid concentration", "25": "Aplasia hypoplasia involving bones of the lower limbs", "26": "Bulbar signs", "27": "Abnormality of skin pigmentation", "28": "Abnormality of upper limb joint", "29": "Flexion contracture of digit", "30": "Muscle stiffness", "31": "Foot dorsiflexor weakness", "32": "Neuronal loss in central nervous system", "33": "Increased bone mineral density", "34": "Sensorimotor neuropathy", "35": "Abnormal circulating lipid concentration", "36": "Nephropathy", "37": "Abnormality of the ribs", "38": "Dementia", "39": "Progressive gait ataxia", "40": "Broad foot", "41": "Abnormal circulating proteinogenic amino acid concentration", "42": "Horizontal nystagmus", "43": "Hand polydactyly", "44": "Abnormal tendon morphology", "45": "Abnormal vascular physiology", "46": "Motor axonal neuropathy", "47": "Clonus", "48": "Abnormal joint morphology", "49": "Thin skin"} |