Select item 318633 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome CAPOS syndrome CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Select item 104500 Larsen syndrome Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies Larsen syndrome, dominant type Select item 3710 Dejerine-Sottas disease Charcot-Marie-Tooth disease type 3 Dejerine-Sottas neuropathy HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III HMSN Type III Hereditary motor and sensory neuropathy 3 Hypertrophic neuropathy of Dejerine-Sottas Select item 358384 Dystonia 12 DYT-ATP1A3 Rapid-Onset Dystonia-Parkinsonism Select item 356581 Charcot-Marie-Tooth disease type 4C CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C CMT 4C Charcot-Marie-Tooth Neuropathy Type 4C Charcot-Marie-Tooth Neuropathy Type 4C (CMT4C) Select item 388073 Hereditary spastic paraplegia 11 Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum Hereditary spastic paraplegia mental impairment and thin corpus callosum Nakamura Osame syndrome SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum Spastic paraplegia 11 Spastic paraplegia 11, autosomal recessive Spastic paraplegia, mental retardation and thin corpus callosum Select item 374868 Myosin storage myopathy Congenital myopathy 7A, myosin storage, autosomal dominant MYH7-Related Myosin Storage Myopathy MYH7-related late-onset scapuloperoneal muscular dystrophy MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT SCAPULOPERONEAL MUSCULAR DYSTROPHY SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE Scapuloperoneal myopathy, MYH7-related Select item 339552 Hereditary spastic paraplegia 7 Autosomal recessive spastic paraplegia type 7 Hereditary spastic paraplegia Paraplegin type Spastic paraplegia 7 Select item 419034 Hereditary spastic paraplegia 17 Autosomal dominant spastic paraplegia type 17 Silver Syndrome Silver spastic paraplegia syndrome Spastic paraplegia 17 Spastic paraplegia with amyotrophy of hands and feet Select item 766702 Alternating hemiplegia of childhood 2 Alternating Hemiplegia of Childhood (AHC) Select item 3130 Clubfoot CLUB FOOT CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY Congenital Talipes Equinovarus PITX1-Related Congenital Clubfoot Talipes equinovarus Select item 481850 Charcot-Marie-Tooth disease axonal type 2O CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O Charcot-Marie-Tooth Neuropathy Type 2O Charcot-Marie-Tooth disease, axonal, type 20 Select item 371512 Charcot-Marie-Tooth disease type 2B CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B CMT 2B Charcot-Marie-Tooth Neuropathy Type 2B Charcot-Marie-Tooth disease, axonal, type 2b Charcot-Marie-Tooth disease, neuronal, Type 2B HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB Hereditary motor and sensory neuropathy 2 B (HMSN 2 B) Peripheral sensory neuropathy, autosomal dominant (PSN) Select item 863137 Severe neurodegenerative syndrome with lipodystrophy ENCEPHALOPATHY, PROGRESSIVE, WITH LIPODYSTROPHY Encephalopathy, progressive, with or without lipodystrophy Select item 2980 Charcot-Marie-Tooth disease Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth hereditary neuropathy Select item 324826 Charcot-Marie-Tooth disease axonal type 2L CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L Charcot-Marie-Tooth Neuropathy Type 2L Charcot-Marie-Tooth disease, type 2L Select item 375127 Charcot-Marie-Tooth disease type 2E CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E CMT 2E Charcot-Marie-Tooth Neuropathy Type 2E/1F Charcot-Marie-Tooth disease, axonal, Type 2E Select item 766570 Neuronopathy, distal hereditary motor, type 5B DHMN VB HMN VB NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VB Select item 343122 Charcot-Marie-Tooth disease type 4G CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4G CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G Neuropathy, hereditary motor and sensory, Russe type Select item 1800401 Hereditary spastic paraplegia 9A Autosomal dominant spastic paraparesis Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES Cataracts, motor neuronopathy, short stature and skeletal abnormalities SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT Spastic paraplegia 9 
