Clubfoot,Charcot-Marie-Tooth Disease, Dominant Intermediate C,Episodic Ataxia,Combined Oxidative Phosphorylation Deficiency 12,Familial Clubfoot With Or Without Associated Lower Limb Anomalies,Charcot-Marie-Tooth Disease, Axonal, Type 2d,Gout,Leukodystrophy,Spinocerebellar Ataxia, Autosomal Recessive 14,46 Xx Gonadal Dysgenesis,Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly,Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation,Pontocerebellar Hypoplasia, Type 6,Mitochondrial Dna Depletion Syndrome 5,Autosomal Recessive Disease,Perrault Syndrome,Spastic Ataxia,Hypertension, Essential,Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis,Leber Hereditary Optic Neuropathy, Modifier Of,Mitochondrial Dna Depletion Syndrome 4a,Pontocerebellar Hypoplasia,Leigh Syndrome,Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes,Mitochondrial Dna Depletion Syndrome 6,3-Methylglutaconic Aciduria, Type Iii,Neuronopathy, Distal Hereditary Motor, Type Va

Optic Nerve Disease,Robinow Syndrome, Autosomal Recessive 1,Charcot-Marie-Tooth Disease, Dominant Intermediate C,Neuromuscular Disease,Cohen Syndrome,Hypertrophic Cardiomyopathy,Antisynthetase Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2d,Autosomal Dominant Distal Hereditary Motor Neuronopathy,Sensorineural Hearing Loss,Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness,Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy,Neuropathy,Leukodystrophy,Charcot-Marie-Tooth Disease,Charcot-Marie-Tooth Disease, Axonal, Type 2n,Microphthalmia,Non-Syndromic Genetic Deafness,Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb,Nonsyndromic Hearing Loss,Microcephaly,Branchiootic Syndrome 1,Tooth Disease,Charcot-Marie-Tooth Disease, Recessive Intermediate B,Disease Of Mental Health,Lactic Acidosis,Deafness, Autosomal Recessive 89,Combined Oxidative Phosphorylation Deficiency 20,Pontocerebellar Hypoplasia, Type 6,Charcot-Marie-Tooth Disease Intermediate Type,Immune Deficiency Disease,Charcot-Marie-Tooth Disease, Axonal, Type 2u,Cerebroretinal Microangiopathy With Calcifications And Cysts 1,Developmental And Epileptic Encephalopathy 29,Perrault Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Robinow Syndrome,Autosomal Recessive Non-Syndromic Intellectual Disability,Neuronopathy, Distal Hereditary Motor, Type Va

Cowpox,Spasticity,Robinow Syndrome, Autosomal Recessive 1,Combined Oxidative Phosphorylation Deficiency 12,Supraglottis Neoplasm,Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity,Neuronopathy, Distal Hereditary Motor, Type Va