COASY - Coenzyme A synthase Gene

NBIA6

Copan

Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation

Coasy Protein-Associated Neurodegeneration

Neurodegeneration, With Brain Iron Accumulation, Type 6

PCH12

Pontocerebellar Hypoplasia Type 12

Coasy-Related Pontocerebellar Hypoplasia

Pontocerebellar Hypoplasia 12

Doid:0112327

Hypoplasia, Pontocerebellar, Type 12

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Autosomal Recessive Spastic Paraplegia Type 35

Spg35

Autosomal Recessive Spastic Paraplegia 35

Fahn

Fatty Acid Hydroxylase-Associated Neurodegeneration

Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome

Woodhouse Sakati Syndrome

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome

WDSKS

Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia

Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome

Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia

Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome

Neuroectodermal Endocrine Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities

Wss

Infantile Neuroaxonal Dystrophy

Plan

Seitelberger Disease

Inad

Infantile Neuroaxonal Dystrophy 1

Inad1

Pla2g6-Associated Neurodegeneration

NBIA2A

Neuroaxonal Dystrophy, Infantile

Neurodegeneration, Pla2g6-Associated

Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related

Phospholipase A2-Associated Neurodegeneration

Nbia2

Pla2g6-Related Disorders

Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy

Karak Syndrome, Included

Nbia2b

Neuroaxonal Dystrophy, Atypical

Neurodegeneration With Brain Iron Accumulation 2b

Nbia, Pla2g6-Related

Seitelberger'S Disease

Neurodegeneration Pla2g6-Associated

Dystrophy, Neuroaxonal, Infantile

Neurodegeneration, With Brain Iron Accumulation, Type 2a

Neuroaxonal Dystrophies

Neurodegeneration With Brain Iron Accumulation 2

Pantothenate Kinase-Associated Neurodegeneration

Pkan

NBIA1

Hallervorden-Spatz Disease

Hallervorden-Spatz Syndrome

Pigmentary Pallidal Degeneration

Neuroaxonal Dystrophy, Late Infantile

Neurodegeneration With Brain Iron Accumulation Type 1

Classic Pantothenate Kinase-Associated Neurodegeneration

Pkan Neuroaxonal Dystrophy, Juvenile-Onset

Brain Iron Accumulation Type I Syndrome

Nbia

Neurodegeneration With Brain Iron Accumulation

Nbia1, Classic Form

Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form

Pkan, Classic Form

Atypical Pantothenate Kinase-Associated Neurodegeneration

Nbia1, Atypical Form

Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form

Pkan, Atypical Form

Hss

Pkan Neuroaxonal Dystrophy Juvenile-Onset

Neurodegeneration, With Brain Iron Accumulation, Type 1

Neuroferritinopathy

NBIA3

Ferritin-Related Neurodegeneration

Hereditary Ferritinopathy

Basal Ganglia Disease, Adult-Onset

Adult Basal Ganglia Disease

Neuroferritinopathy

Basal Ganglia Disease, Adult-Onset

Basal Ganglia Disease Adult-Onset

Adult-Onset Basal Ganglia Disease

Neurodegeneration, With Brain Iron Accumulation, Type 3

NBIA5

Beta-Propeller Protein-Associated Neurodegeneration

Bpan

Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

Senda

Neurodegeneration With Brain Iron Accumulation Type 5

Neurodegeneration With Brain Iron Accululation 5

Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

Neurodegeneration, With Brain Iron Accululation, Type 5

NBIA2B

Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related

Neuroaxonal Dystrophy, Atypical

Karak Syndrome

Atypical Neuroaxonal Dystrophy

Neurodegeneration With Brain Iron Accumulation Pla2g6-Related

Neurodegeneration, With Brain Iron Accumulation, Type 2b

Neurodegeneration With Brain Iron Accumulation 2

Park9

Krppd

KRS

Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia

Autosomal Recessive Parkinson Disease 9

Parkinson Disease 9

Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset

Autosomal Recessive Juvenile Onset Parkinson Disease 9

Parkinson Disease Type 9

Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia

Park 9

Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis

Cln12 Disease

Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis

Parkinson Disease Autosomal Recessive 9

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

Neuroaxonal Dystrophies

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Early-Onset Parkinson Disease

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Thymidine Phosphorylase Deficiency

MTDPS4B

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mngie

Myoneurogastrointestinal Encephalopathy Syndrome

Ogimd

Oculogastrointestinal Muscular Dystrophy

Polip

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mngie, Polg-Related

Mepop

Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

Mngie Disease

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Mngie Polg-Related

Mitochondrial Dna Depletion Syndrome, Type 4b

Visceral Myopathy Familial External Ophthalmoplegia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia