FA2H - fatty acid 2-hydroxylase Gene

Fatty Acid Hydroxylase-Associated Neurodegeneration

Fahn

SPG35

Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia 35, Autosomal Recessive

Spastic Paraplegia 35

Dysmyelinating Leukodystrophy And Spastic Paraparesis

Leukodystrophy Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia-35

Paraplegia, Spastic, Autosomal Recessive, Type 35

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

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

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Leukodystrophies

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spax

Ataxia, Spastic

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

SPG73

Hereditary Spastic Paraplegia 73

Autosomal Dominant Spastic Paraplegia Type 73

Autosomal Dominant Spastic Paraplegia 73

Paraplegia, Spastic, Autosomal Dominant, Type 73

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

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

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

HSN2C

Hereditary Sensory Neuropathy Type 2c

Hereditary Sensory Neuropathy Type Iic

Neuropathy, Hereditary Sensory, Type 2c

Neuropathy, Hereditary Sensory, 2c

Hsn Iice

Neuropathy, Sensory, Hereditary, Type Iic

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

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

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

SPG54

Hereditary Spastic Paraplegia 54

Autosomal Recessive Spastic Paraplegia Type 54

Autosomal Recessive Spastic Paraplegia 54

Paraplegia, Spastic, Type 54, Autosomal Recessive

SPG43

Hereditary Spastic Paraplegia 43

Autosomal Recessive Spastic Paraplegia Type 43

Autosomal Recessive Spastic Paraplegia 43

Paraplegia, Spastic, Type 43, Autosomal Recessive

Neuroaxonal Dystrophies

NBIA4

Mpan

Mitochondrial Protein-Associated Neurodegeneration

Nbia Due To C19orf12 Mutation

Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation

Neurodegeneration With Brain Iron Accumulation Type 4

Mitochondrial Membrane Protein Associated Neurodegeneration

Neurodegeneration, With Brain Iron Accumulation, Type 4

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

SPG26

Hereditary Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia Type 26

Gm2 Synthase Deficiency

Spastic Paraplegia 26

Autosomal Recessive Spastic Paraplegia 26

Paraplegia, Spastic, Autosomal Recessive, Type 26

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2

Sjögren-Larsson Syndrome

SLS

Faldh Deficiency

Fatty Aldehyde Dehydrogenase Deficiency

Fatty Acid Alcohol Oxidoreductase Deficiency

Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia

Sjogren Larsson Syndrome

Fatty Alcohol:Nad+ Oxidoreductase Deficiency

Sjogren-Larsson'S Syndrome

Fadh Deficiency

Fao Deficiency

Congenital Icthyosis Mental Retardation Spasticity Syndrome

Ichthyosis Oligophrenia Syndrome

Sjoegren-Larsson Syndrome

SPG14

Hereditary Spastic Paraplegia 14

Autosomal Recessive Spastic Paraplegia Type 14

Autosomal Recessive Spastic Paraplegia 14

Spastic Paraplegia 14

Early-Onset Parkinson Disease

Parkinsonian-Pyramidal Syndrome

Pallidopyramidal Syndrome

Parkinson Disease 15, Autosomal Recessive

PARK15

Pkps

Pallido-Pyramidal Syndrome

Parkinson'S Disease 15

Autosomal Recessive Early-Onset Parkinson Disease 15

Autosomal Recessive Early-Onset Parkinson'S Disease 15

Pallido-Pyramidal Disease

Parkinson Disease 15

Parkinson Disease 15 Autosomal Recessive

Pps

Parkinson Disease, Type 15

Brain Degeneration

Degenerative Brain Disorder

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

SPG1

Gareis-Mason Syndrome

Spastic Paraplegia 1, X-Linked

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

L1cam Syndrome

Spastic Paraplegia 1

Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

Clasped Thumb And Mental Retardation

Thumb, Congenital Clasped, With Mental Retardation

Adducted Thumb With Mental Retardation

Hereditary Spastic Paraplegia 1

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

X-Linked Corpus Callosum Agenesis

X-Linked Spastic Paraplegia 1

L1 Disease

X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

Adducted Thumb With Intellectual Disability

Clasped Thumb And Intellectual Disability

Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

Thumb Congenital Clasped With Intellectual Disability

X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

Adducted Thumbs-Mental Retardation Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Mental Retardation-Clasped Thumb Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia Type 1, X-Linked

MASA

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Crash

Masa Syndrome

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10

Pmld1

Hypomyelinating Leukodystrophy 2

HLD2

Pelizaeus-Merzbacher-Like Disease 1

Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation

Pelizaeus-Merzbacher-Like Disease Type 1

Pelizaeus-Merzbacher-Like Disease, 1

Pelizaeus Merzbacher Like Disease

Pelizaeus-Merzbacher-Like Disease

Pmld - Pelizaeus Merzbacher Like Disease

Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1

Pmldar1

Leukodystrophy, Hypomyelinating, Type 2

Palsy, Cerebral, Spastic

Infantile Hemiplegia Nos

Postnatal Infantile Hemiplegia Nos

Congenital Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Congenital Hemiplegia Nos

Hemiplegic Cerebral Palsy

Hemiplegic Infantile Cerebral Palsy

PMD

HLD1

Pelizaeus-Merzbacher Brain Sclerosis

Leukodystrophy, Hypomyelinating, 1

Diffuse Familial Brain Sclerosis

Pelizaeus Merzbacher Brain Sclerosis

Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

Cockayne-Pelizaeus-Merzbacher Disease

Hypomyelinating Leukodystrophy 1

Leukodystrophy, Sudanophilic

Pelizaeus Merzbacher Disease

Hypomyelinating Leukodystrophy, 1

Sudanophilic Leukodystrophy

Pelizaeus-Merzbacher Disease, Connatal Form

Connatal Pmd

Pelizaeus-Merzbacher Disease Type Ii

Severe Pmd

Null Syndrome

Plp1 Null Syndrome

Pelizaeus-Merzbacher Disease, Null Syndrome

Brain Sclerosis Diffuse Familial

Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

Leukodystrophy Hypomyelinating 1

Diffuse Cerebral Sclerosis Of Schilder

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

Hld

Leukodystrophy, Hypomyelinating