| {"0": "Disproportionate short limb short stature", "1": "Disproportionate short stature", "2": "Rhizomelia", "3": "Variable expressivity", "4": "Phenotypic variability", "5": "Ragged red muscle fibers", "6": "Bulbar signs", "7": "Abnormal muscle fiber morphology", "8": "Abnormal pleura morphology", "9": "Central scotoma", "10": "Inability to walk", "11": "Abnormal epiphyseal ossification", "12": "Coxa vara", "13": "Decreased number of peripheral myelinated nerve fibers", "14": "Aplasia hypoplasia involving bones of the lower limbs", "15": "Peripheral demyelination", "16": "Demyelinating peripheral neuropathy", "17": "Abnormal peripheral myelination", "18": "Hemiparesis", "19": "Limb muscle weakness", "20": "Scotoma", "21": "Sensorimotor neuropathy", "22": "Bilateral sensorineural hearing impairment", "23": "Achilles tendon contracture", "24": "Papule", "25": "Abnormal auditory evoked potentials", "26": "Personality changes", "27": "Horizontal nystagmus", "28": "Proximal amyotrophy", "29": "Polyneuropathy", "30": "Onion bulb formation", "31": "Aplasia hypoplasia involving bones of the feet", "32": "Abnormal metatarsal morphology", "33": "Abnormality of the achilles tendon", "34": "Supraventricular arrhythmia", "35": "Abnormality of thyroid physiology", "36": "Areflexia of lower limbs", "37": "Toe walking", "38": "Contractures of the joints of the upper limbs", "39": "Abnormal delivery", "40": "Lower limb amyotrophy", "41": "Hemiplegia hemiparesis", "42": "External ophthalmoplegia", "43": "Abnormal muscle fiber protein expression", "44": "Abnormal csf protein level", "45": "Type 1 muscle fiber atrophy", "46": "Abnormality of the musculature of the lower limbs", "47": "Schizophrenia", "48": "Lipodystrophy", "49": "Difficulty walking"} |