{"0": "Reduced tendon reflexes", "1": "Micromelia", "2": "Amyotrophic lateral sclerosis", "3": "Wormian bones", "4": "Abnormality of long bone morphology", "5": "Rimmed vacuoles", "6": "Abnormal nerve conduction velocity", "7": "Abnormal neuron morphology", "8": "Pain", "9": "Distal lower limb muscle weakness", "10": "Foot dorsiflexor weakness", "11": "Aplasia hypoplasia of the optic nerve", "12": "Abnormality of skeletal muscle fiber size", "13": "Incomplete penetrance", "14": "Upper limb amyotrophy", "15": "Impaired pain sensation", "16": "Aplasia hypoplasia of the extremities", "17": "Distal muscle weakness", "18": "Abnormal brainstem mri signal intensity", "19": "Optic nerve hypoplasia", "20": "Abnormality of pain sensation", "21": "Abnormality of peripheral nerves", "22": "Abnormal motor nerve conduction velocity", "23": "Recurrent fractures", "24": "Abnormal peripheral myelination", "25": "Open mouth", "26": "Motor neuron atrophy", "27": "Gonadal neoplasm", "28": "Decreased activity of mitochondrial complex i", "29": "Abnormal muscle fiber morphology", "30": "Ectrodactyly", "31": "Toe walking", "32": "Expressive language delay", "33": "Abnormal synaptic transmission at the neuromuscular junction", "34": "Skeletal muscle atrophy", "35": "Abnormality of salivation", "36": "Decreased number of peripheral myelinated nerve fibers", "37": "Abnormality of muscle size", "38": "Abnormal bone structure", "39": "Ovarian neoplasm", "40": "Abnormal delivery", "41": "Platyspondyly", "42": "Limb girdle muscle atrophy", "43": "Increased serum pyruvate", "44": "Abnormal peripheral nervous system physiology", "45": "Nevus", "46": "Photophobia", "47": "Proximal muscle weakness in upper limbs", "48": "Muscle fiber atrophy", "49": "Abnormality of hair pigmentation"}