PNPT1 - polyribonucleotide nucleotidyltransferase 1 Gene

COXPD13

Combined Oxidative Phosphorylation Defect Type 13

Combined Oxidative Phosphorylation Deficiency, Type 13

Spinocerebellar Ataxia Type 25

SCA25

DFNB70

Deafness, Autosomal Recessive, 70

Deafness, Autosomal Recessive 70

Autosomal Recessive Deafness 70

Dfnb70

Deafness, Autosomal Recessive, Type 70

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

SPG25

Hereditary Spastic Paraplegia 25

Autosomal Recessive Spastic Paraplegia Type 25

Spastic Paraplegia 25

Disc Herniation With Spastic Paraplegia, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 25

Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome

Succinate-Coa Ligase Deficiency

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

MTDPS5

Booth-Haworth-Dilling Syndrome

Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic

Mitochondrial Dna Depletion Syndrome-5

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Encephalomyopathy Aminoacidopathy

Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria

Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria

Succinate-Coenzyme A Ligase Deficiency

Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome

Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Dna Depletion Syndrome, Type 5

Epileptic Encephalopathy, Early Infantile, 7

DEE7

Eiee7

Kcnq2-Related Epileptic Encephalopathy

Kcnq2-Related Neonatal Epileptic Encephalopathy

Developmental And Epileptic Encephalopathy, 7

Early Infantile Epileptic Encephalopathy 7

Kcnq2-Nee

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile, Type 7

Early Infantile Epileptic Encephalopathy With Suppression Bursts

DFNB84A

Deafness, Autosomal Recessive 84

Autosomal Recessive Nonsyndromic Deafness 84a

Dfnb84

Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction

Autosomal Recessive Deafness 84a

Autosomal Recessive Deafness 84a With Vestibular Dysfunction

Deafness, Autosomal Recessive, 84a

Deafness Autosomal Recessive 84

Deafness Autosomal Recessive 84a With Vestibular Dysfunction

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84

Deafness, Autosomal Recessive, Type 84a

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

COXPD1

Early Fatal Progressive Hepatoencephalopathy

Hepatoencephalopathy Due To Coxpd1

Combined Oxidative Phosphorylation Deficiency, Type 1

Hepatoencephalopathy, Early Fatal Progressive

Hepatoencephalopathy Early Fatal Progressive

Deafness, Autosomal Recessive, Nonsyndromic

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Spax

Ataxia, Spastic