Select item 1845578 Werdnig-Hoffmann disease HMN (Hereditary Motor Neuropathy) Proximal Type I Muscular atrophy, infantile Proximal spinal muscular atrophy, type 1 SMA I SMA, infantile acute form Spinal muscular atrophy 1 Select item 124377 Charcot-Marie-Tooth disease type 1B CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type IB HEREDITARY MOTOR AND SENSORY NEUROPATHY I HEREDITARY MOTOR AND SENSORY NEUROPATHY IB Hereditary motor and sensory neuropathy 1B Peroneal muscular atrophy Select item 1648317 Charcot-Marie-Tooth disease type 2A2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2 Charcot-Marie-Tooth Neuropathy Type 2A2 Charcot-Marie-Tooth disease, type 2A2A HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2 HMSN IIA2 Select item 1830423 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Frontotemporal dementia with motor neuron disease 1 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 162893 Agenesis of the corpus callosum with peripheral neuropathy Agenesis of corpus callosum with neuronopathy Agenesis of corpus callosum with peripheral neuropathy Agenesis of corpus callosum with polyneuropathy Andermann syndrome Charlevoix disease Corpus callosum agenesis neuronopathy HMSN/ACC Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum Select item 75727 Charcot-Marie-Tooth disease, type IA CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A CMT 1A Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease, demyelinating, type 1A HEREDITARY MOTOR AND SENSORY NEUROPATHY IA HMSN 1A Hereditary motor and sensory neuropathy 1A Select item 140747 Hereditary motor and sensory neuropathy with optic atrophy CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 Hereditary Motor and Sensory Neuropathy VI PERIPHERAL NEUROPATHY AND OPTIC ATROPHY Select item 388083 Autosomal recessive distal spinal muscular atrophy 1 HMN VI NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VI NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 Neuronopathy, distal hereditary motor, type VI Neuronopathy, severe infantile axonal, with respiratory failure SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC Severe infantile axonal neuropathy with respiratory failure Spinal muscular atrophy with respiratory distress 1 Select item 1848393 Neuronopathy, distal hereditary motor, type 5A DHMN VA Distal Hereditary Motor Neuropathy Type V Distal Spinal Muscular Atrophy V NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5 Select item 335168 X-linked distal spinal muscular atrophy type 3 ATP7A-Related Distal Motor Neuropathy NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE Select item 66323 Biotinidase deficiency BTD deficiency Biotin deficiency Late-onset biotin-responsive multiple carboxylase deficiency Select item 11161 Phytanic acid storage disease Disorder of cornification 11 (phytanic acid type) Doc 11 (phytanic acid type) HMSN 4 HMSN IV Herditary sensory and motor neuropathy type 4 Heredopathia atactica polyneuritiformis Hypertrophic neuropathy of Refsum PEX7-Related Refsum Disease PHYH-Related Refsum Disease Phytanic acid oxidase deficiency REFSUM DISEASE, CLASSIC Refsum Disease Select item 342947 Charcot-Marie-Tooth disease axonal type 2C CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C Charcot-Marie-Tooth Neuropathy Type 2C Charcot-Marie-Tooth disease type 2C Hereditary motor and sensory neuropathy 2 C Select item 3925 Duchenne muscular dystrophy Muscular dystrophy, pseudohypertrophic progressive, Duchenne type 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 82777 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY GALACTOSEMIA I GALT deficiency Galactose-1-phosphate uridyltransferase deficiency Galactosemia, classic Transferase Deficiency Galactosemia Select item 355983 Amyotrophic lateral sclerosis type 4 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES SETX-Related Amyotrophic Lateral Sclerosis Select item 375157 Neuronopathy, distal hereditary motor, type 7B HMN VIIB LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14 NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIB NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB Select item 322474 Neuronopathy, distal hereditary motor, type 7A HARPER-YOUNG MYOPATHY HMN VIIA NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA Neuronopathy, distal hereditary motor, autosomal dominant 7 Neuronopathy, distal hereditary motor, type viia SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS 
