Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
chemokine (C-C motif) receptor 10
Synonyms:
CCR10,  GPR2,  Cmkbr9

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ccr10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ccr10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Leukodystrophy, Hypomyelinating, 18
Scoliosis, Dystonia, Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropath... OMIM:618404
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Progressive spastic quadriplegia... ORPHA:280234
Roussy-Lévy Syndrome
Scoliosis, Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, I... ORPHA:3115
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Decreased nerve conduction velocity, Gait disturbance, Kyphosis, Ataxia, Impai... ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Scoliosis, Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction ... OMIM:609260
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Gait disturba... OMIM:611228
Chronic Inflammatory Demyelinating Polyneuropathy
Sensory ataxia, Paresthesia, Peripheral demyelination, Spontaneous pain sensation, Motor conducti... ORPHA:2932
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased sensory nerve conduction vel... ORPHA:101081
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Tremor, Spastic parapare... ORPHA:101077
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Abnormal nerve conduction velocity, Gait disturbance, Kyphosis, Ataxia, Impair... ORPHA:101075
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Impaired pain sensation, Paresthesia, Impaired tactile sensation, Difficulty walking, Gait distur... ORPHA:435387
Charcot-Marie-Tooth Disease, Type 4H
Scoliosis, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased numbe... OMIM:609311
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Abnormal nerve conduction velocity, Paraparesis, Gait disturbance, Kyphosis, A... ORPHA:99014
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Difficulty walkin... OMIM:302800
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Scoliosis, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action poten... OMIM:618912
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... ORPHA:352675
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Frequent falls, Decreased motor nerve conduction velocity, Falls, Distal sensory impairment OMIM:614228
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paresis, Sensory ataxia, Basal l... OMIM:614895
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Myoclonus, Failure ... OMIM:618356
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Hypertonia, Abnormal pyramidal sig... OMIM:600361
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Pe... OMIM:605285
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Spastic Ataxia, Charlevoix-Saguenay Type
Scoliosis, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Decreased senso... OMIM:270550
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Ataxia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Scoliosis, Paraparesis, Distal sensory impairment, Decreased nerve conduction velocity, Steppage ... OMIM:302802
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Impaired vibration sensation at an... ORPHA:90103
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Demyelinating sensory neuropathy, Gait disturbance, Abnormal motor evoked pote... ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Ataxia-Deafness-Intellectual Disability Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Intention tremor, Babinski sign, Decreased nerve conduction velo... ORPHA:98890
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, ... OMIM:618876
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... OMIM:610100
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Ankle clonus, Ataxia, Unsteady gait, Cerebellar atrophy, Imp... OMIM:159550
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Charcot-Marie-Tooth Disease Type 4G
Scoliosis, Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory... ORPHA:99953
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Dystonia, Choreoathetosis, Spastic par... OMIM:608804
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitud... ORPHA:99950
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... ORPHA:276435
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Inability to walk, Abnormal myelination, Babinski sign, Abnormality of periph... ORPHA:431329
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Autosomal Recessive Spastic Paraplegia Type 21
Apraxia, Abnormality of extrapyramidal motor function, Difficulty walking, Gait disturbance, Abno... ORPHA:101001
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebellar atrophy, Myoclonus, Choreoathetosi... OMIM:616981
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potenti... OMIM:601596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Abnormal nerve conduction velocity, Chorea, Slurre... ORPHA:98755
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Impaire... OMIM:614436
Charcot-Marie-Tooth Disease Type 1F
Scoliosis, Impaired proprioception, Mixed demyelinating and axonal polyneuropathy, Impaired vibra... ORPHA:101085
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia 37
Tremor, Ataxia, Cerebellar atrophy, Unsteady gait, Frequent falls OMIM:615945
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased number of peripheral myelina... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Peripheral axonal neuropathy, Distal sensory impairment,... OMIM:617087
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, EEG abnormality, Myoclonus, Ataxia OMIM:600143
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Cerebellar atrophy, Distal sensory impairment, Decreased nerve conducti... OMIM:612674
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Chronic axonal neuropathy, Distal senso... OMIM:606595
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Neuronopathy, Distal Hereditary Motor, Type Vc
Chaddock reflex, Decreased compound muscle action potential amplitude, Difficulty walking, Babins... OMIM:619112
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Scoliosis, Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebell... OMIM:270500
Charcot-Marie-Tooth Disease, Type 4B3
Scoliosis, Gait disturbance, Onion bulb formation, Distal sensory impairment, Decreased nerve con... OMIM:615284
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Spastic tetraparesis, Babinski sign, Peripheral... OMIM:249900
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Scoliosis, Dystonia, Chorea, Hyperkinetic movements, Oculogyric crisis, EEG ab... OMIM:614254
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregu... OMIM:601382
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Scoliosis, Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal... OMIM:608673
Baker-Gordon Syndrome
Inability to walk, Scoliosis, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereoty... OMIM:618218
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Leukodystrophy, Loss of ... OMIM:610532
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Peripheral axonal neur... OMIM:610743
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... OMIM:607706
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fa... OMIM:607317
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Fasciculations, Decreased motor nerve conduction velocity OMIM:615575
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonom... ORPHA:139578
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Spinocerebellar Ataxia 1
Abnormality of extrapyramidal motor function, Impaired proprioception, Spasticity, Dysdiadochokin... OMIM:164400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Scoliosis, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb spas... OMIM:611225
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... OMIM:617829
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment, Peripheral demy... ORPHA:99944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD... ORPHA:331206
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... ORPHA:401840
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, G... OMIM:603472
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... OMIM:615768
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality OMIM:617831
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Hypsarrhythmia, Hyperkinetic movements, EEG abnormality, Spastic tet... OMIM:618285
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... ORPHA:65684
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Delayed myelination, Kyphosis, Ataxia, Lumbar hyperlordos... OMIM:616756
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Parkinsonis... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Abnormal nervous system electrophysio... OMIM:256731
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... OMIM:615376
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, EEG abnormality, Myoclonus, Babins... OMIM:606777
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Cerebellar atrophy, M... OMIM:614860
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Dystonia, Gait ataxia, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity, Spastic gait, Babinski sign, Distal se... ORPHA:100998
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Abnormal myelination, Babin... ORPHA:401820
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Oculomotor apraxia, Cerebellar hypoplasia, Ata... ORPHA:313772
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Gait disturbance, Onion bulb formation, Abnormal auditory evoked potentials, Distal ... OMIM:601455
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Distal ... OMIM:618387
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Delayed CNS myelination, Abnormality of extrapy... ORPHA:352596
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cer... ORPHA:98763
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Sialidosis Type 1
Scoliosis, Tremor, Abnormal form of the vertebral bodies, Gait disturbance, Slurred speech, Kypho... ORPHA:812
Charcot-Marie-Tooth Disease Type 1B
Scoliosis, Peripheral dysmyelination, Somatic sensory dysfunction, Peripheral axonal neuropathy, ... ORPHA:101082
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Paresthesia, Intention tremor, Abnormal pyramidal sign, Kyphosis, Ataxia, Dysmetria, M... ORPHA:48431
Pontocerebellar Hypoplasia, Type 1A
Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Fasciculations, Hypoplasia of... OMIM:607596
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Inability to walk, Tremor, Somatic sensory dysfunction,... ORPHA:90117
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Impaired vibratory sensation, Spastic paraparesis, Poor coordination, Abnormal pyramida... OMIM:238970
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Scoliosis, Clumsiness, Progressive gait ataxia, Limb ataxia, Axonal loss, Pro... ORPHA:1175
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Myoclonus, Choreoathetosis OMIM:618497
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... ORPHA:397946
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... OMIM:128230
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Decreased nerve conduction velocity, Sensory axonal neuropathy, EEG ... ORPHA:457205
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Friedreich Ataxia
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Dystonia, Gait ataxia, C... ORPHA:95
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Paresthesia, Dysesthesia, Abnormality of the ve... ORPHA:85446
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Scoliosis, Decreased motor nerve conduction velocity, Dystonia, Tremor, Gait ataxia, Head tremor,... OMIM:606002
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Krabbe Disease
Decreased nerve conduction velocity, Hypertonia, CNS demyelination, Decerebrate rigidity, EEG abn... OMIM:245200
Hypermanganesemia With Dystonia 2
Scoliosis, Dystonia, Tremor, Gait disturbance, Ankle clonus, Bradykinesia, Cerebellar atrophy, Pa... OMIM:617013
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Scoliosis, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... OMIM:614409
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Giant somatosensory evoked potenti... OMIM:613608
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, A... ORPHA:79263
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Scoliosis, Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations... OMIM:159950
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, St... OMIM:607684
Yuan-Harel-Lupski Syndrome
Gait ataxia, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Unsteady g... OMIM:616652
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Ataxia, Peripheral... OMIM:604168
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Foxg1 Syndrome
Inability to walk, Scoliosis, Dystonia, Delayed myelination, Difficulty walking, Hyperkinetic mov... ORPHA:561854
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Decreased number of peripheral myelinated ... OMIM:604484
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Scoliosis, Dystonia, Tremor, Ankle clonus, Bradykinesia, Progressive inability to walk, Cerebella... ORPHA:521406
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Cerebellar atrophy, EEG a... OMIM:617810
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Cerebellar atrophy, Ataxia OMIM:617862
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal motor evoked potentials, Spasticity, Impaired vibratory sensation, Abnormal pyramidal si... ORPHA:98
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Cerebral hypomyeli... OMIM:612438
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD3-positive T cells... ORPHA:276
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired temperature sensation, Peripheral axonal neuropathy, Impaired pain sensation, Steppage g... ORPHA:99940
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Scoliosis, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Hyperkin... OMIM:619317
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, EEG abnormality,... ORPHA:71277
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Ataxia, Unsteady gait, Cerebellar atrophy, Spastic tetraplegia, Decrease... OMIM:256600
Succinic Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Hyperkinetic movements, Ataxia, Cerebellar atrophy, EEG abnormality, Hyp... OMIM:271980
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Cerebellar atrophy, Myoclonus, Dysme... OMIM:619028
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Decreased nerve conduction velocity, Lower limb hypertonia, Limb dystonia, F... ORPHA:319514
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Myoclonus, Ataxia OMIM:204500
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Apraxia, Tremor, Gait ataxia, Scoliosis, Gait d... ORPHA:3095
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Chorea, ... ORPHA:13
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis, EEG abnormality OMIM:300518
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis, Herniation of intervertebral nuclei, Abnormal lumbar spine morph... ORPHA:101005
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Combined Oxidative Phosphorylation Defect Type 39
Scoliosis, Hypsarrhythmia, Loss of ability to walk, Toe walking, Cerebellar hypoplasia, Ankle clo... ORPHA:565624
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Scoliosis, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal ... ORPHA:2590
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment OMIM:613287
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Cerebellar... OMIM:616948
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis, Abnormal cerebellum morphology, Myocl... OMIM:123400
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, EEG abnormality, Rigidity OMIM:617836
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis OMIM:619099
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Combined Saposin Deficiency
Hyperkinetic movements, CNS demyelination, Myoclonus, Babinski sign, Fasciculations, Optic atrophy OMIM:611721
Optic Atrophy 11
Facial diplegia, Hyperkinetic movements, Cerebellar hypoplasia, Ataxia, Dysmetria, Hyperactivity,... OMIM:617302
Atypical Juvenile Parkinsonism
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting t... ORPHA:391411
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Okur-Chung Neurodevelopmental Syndrome
Pachygyria, Decreased circulating antibody level, Decreased circulating IgA level, Simplified gyr... OMIM:617062
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Clumsiness, Impaired vibratory sensation, Gait disturbance, Chronic axonal neuropathy,... ORPHA:88644
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Choreoathetosis, Cogwheel rigidity, Gait ataxia, Hypertonia, Gait disturbance, Tetrapar... ORPHA:225154
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Short neck, Ataxia, Failure to thrive OMIM:618951
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Metachromatic Leukodystrophy
Dystonia, Decreased nerve conduction velocity, Chorea, Gait disturbance, Ataxia, Spastic tetraple... OMIM:250100
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Kyphosis, Ankle clonus, Bradyki... OMIM:617435
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Paraparetic Variant Of Guillain-Barré Syndrome
Sciatica, Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal pr... ORPHA:231445
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Limb ataxia, Oculomoto... OMIM:208920
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Scoliosis, Dystonia, Hypoplasia of the pons, Hypsarrhythmia, Myoclonus, Optic atrophy, Spasticity OMIM:617669
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity OMIM:608895
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Posterior Column Ataxia With Retinitis Pigmentosa
Scoliosis, Positive Romberg sign, Sensory ataxia, Decreased sensory nerve conduction velocity, Pe... OMIM:609033
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Scoliosis, Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebel... ORPHA:352641
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:118300
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Spastic paraparesis, Gait disturbance, Optic neuropath... ORPHA:101076
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Kyphosis, Limb dystonia, Failure to thrive, Impaired proprioception... ORPHA:319199
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Clumsiness, Truncal... ORPHA:228360
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Epilepsy, Progressive Myoclonic, 6
Scoliosis, Tremor, Difficulty walking, Ataxia, Myoclonus OMIM:614018
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Thoracic kyphosis, Abn... ORPHA:909
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Developmental And Epileptic Encephalopathy 40
Spasticity, Choreoathetosis, Myoclonus, Hypsarrhythmia OMIM:617065
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Scoliosis, Delayed myelination, Kyphosis, Cerebellar hypoplasia, Ataxia, Obesi... OMIM:618443
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Jaberi-Elahi Syndrome
Inability to walk, Scoliosis, Dystonia, Tremor, Gait ataxia, Kyphosis, Cerebellar atrophy, Failur... OMIM:617988
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... OMIM:601068
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Scoliosis, Positive Romberg sign, Decreased motor nerve conduction velocity, Vocal cord paresis, ... OMIM:601152
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Ataxia, Hyperactivity, Optic atrophy, Spasticity OMIM:300983
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Positive Romberg sign, Gait ataxia, Gait disturbance, Kyphosis, Ataxia, Abnormal senso... ORPHA:88628
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Scoliosis, Apraxia, Extrapyramidal muscular rigidity, Slurred speech, Gait dis... ORPHA:93952
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Gait ataxia, Myoclonus OMIM:616540
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic paraparesis, Peripheral demyelination, Peripheral hypomyelination, Abnormal autonomic ner... OMIM:609136
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Cerebellar hypoplasia, Cerebellar atrophy, Myoclonus, Optic atrophy, ... OMIM:619303
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Abnormal cerebellar vermis morphology, Optic a... ORPHA:33445
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Truncal obesity, Decreased nerve conduction velocity ORPHA:2928
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Dystonia, Gait ataxia, Clumsiness, Progressive gait ataxia, Toe walking, Decerebr... ORPHA:309256
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Back pain, Parkinsonism, Decreased nerve conduction velocity, Fascicu... ORPHA:329478
Progressive Myoclonic Epilepsy Type 3
EEG with focal epileptiform discharges, Chin myoclonus, Progressive cerebellar ataxia, Cerebellar... ORPHA:263516
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Difficulty walking, Knee clonus, ... OMIM:275900
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, EEG with spike-wave complexes, Truncal ataxia, Gait ataxia, Chorea, EEG with polyspike wa... OMIM:618587
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Myoclonus, Ataxia, Abnormality of extrapyramidal motor function OMIM:204300
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Myoclonus, L... OMIM:602629
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria OMIM:612437
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesi... ORPHA:35069
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor, Enhancement of the C-reflex, Jerk-locked premyoclonus spikes OMIM:615127
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Juvenile Amyotrophic Lateral Sclerosis
Scoliosis, Dystonia, Axial dystonia, Hypertonia, Spastic diplegia, Head titubation, Toe walking, ... ORPHA:300605
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal s... OMIM:617672
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... ORPHA:275
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Ataxia, Interictal epileptiform activity, EEG with polyspike wave ... OMIM:254800
Autosomal Recessive Spastic Paraplegia Type 48
Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Myoclonus, Abnormality of the cervical... ORPHA:306511
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction ... OMIM:218000
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Optic atrophy, Obesity OMIM:614947
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tr... ORPHA:401830
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Impaired distal tactile sensation, Peripheral axonal neuropathy, Decreased dist... OMIM:618400
Friedreich Ataxia
Scoliosis, Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction v... OMIM:229300
Metachromatic Leukodystrophy, Juvenile Form
Leukodystrophy, Dystonia, Clumsiness, Progressive gait ataxia, Intention tremor, Decerebrate rigi... ORPHA:309263
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Cerebellar atrophy, Dysm... OMIM:615491
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Scoliosis, Tremor, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Periphe... OMIM:616505
Childhood-Onset Spasticity With Hyperglycinemia
Leukodystrophy, Hypertonia, Spastic diplegia, Ataxia, Unsteady gait, Myoclonus, Babinski sign, Pr... ORPHA:401866
Congenital Disorder Of Glycosylation, Type In
Ataxia, Myoclonus, Failure to thrive, Short neck, Spasticity OMIM:612015
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia, Decreased nerve conduction velocity ORPHA:1933
Myoclonic-Atonic Epilepsy
Scoliosis, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... OMIM:607876
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Paresthesia ORPHA:85162
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Impaired pain sensation, Gait ataxia, Abnormality of extrapyramidal ... ORPHA:500180
Isaac Syndrome
Fasciculations, EEG abnormality, Weight loss, Distal sensory impairment ORPHA:84142
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Developmental And Epileptic Encephalopathy 16
Dystonia, Delayed myelination, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclon... OMIM:615338
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy, Distal sensory impairment, Kyphoscoliosis OMIM:616668
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Scoliosis, Difficulty walking, Hypertonia, Abnormal pyramidal sign, Distal sensory impairment, Fa... OMIM:616688
Charcot-Marie-Tooth Disease Type 4C
Sensory ataxia, Vocal cord paralysis, Impaired distal vibration sensation, Thoracic scoliosis, Ab... ORPHA:99949
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus OMIM:608105
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, EEG with multifocal slow activity, Hypsarrhythmia, Abnormality of coordination, Difficult... ORPHA:442835
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Abnormal aut... OMIM:300894
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Decreased circulating IgA level, Decreased circulating total IgM, ... OMIM:615577
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Metachromatic Leukodystrophy, Adult Form
Leukodystrophy, Dystonia, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Progr... ORPHA:309271
Caribbean Parkinsonism
Dystonia, Apraxia, Autonomic bladder dysfunction, Orthostatic hypotension, Progressive gait ataxi... ORPHA:97355
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, EEG with generalized polyspikes, Hyperkinetic movements, EE... ORPHA:725
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Optic atrophy,... ORPHA:391417
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Scoliosis, Delayed myelination, Gait disturbance, Cerebellar atrophy, Myoclonu... OMIM:618241
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Toe walking, Waddling gait, Fasciculations, Spasticity OMIM:615290
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Decreased motor nerve conduction velocity, Lower limb spasticity, Spastic gai... OMIM:256840
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Leukodystrophy, Ataxia, Abnormal upper motor neuron morphology, Abnorm... OMIM:607694
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Difficulty walking, Amyotrophic lateral sclerosis, Unsteady gait, Distal sens... ORPHA:600
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnormal lower ... ORPHA:275872
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Dystonia, Difficulty walking, Kyphosis, Ataxia, Obesity, Lower limb spasticity, Unstea... ORPHA:464282
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Kyphosis, Lower lim... OMIM:614898
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia, Failure to thrive in infancy, Myoclonus, Babinski sign OMIM:619065
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Scoliosis, Decreased motor nerve conduction velocity, Axial dystonia, Decreas... OMIM:619026
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia ORPHA:66631
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Hypertonia, Toe walking, Upper motor neuron dysfunction, Mixed demyelina... ORPHA:466768
Hemimegalencephaly
Interictal EEG abnormality, Hemihypsarrhythmia, EEG with burst suppression, Hemiparesis, EEG with... ORPHA:99802
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor OMIM:254900
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Gait disturbance, Kyphosis, Ataxia, Cerebellar atrophy ORPHA:85317
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, EEG abnormality, Babinski sign, Short neck, Choreoath... OMIM:300055
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Adult Krabbe Disease
Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Tetraparesis, Upper mo... ORPHA:206448
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Cdkl5-Deficiency Disorder
Scoliosis, Difficulty walking, Gait disturbance, Kyphosis, Multifocal epileptiform discharges, Im... ORPHA:505652
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Torticollis, Myoclonus, Limb myoclonus ORPHA:36899
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Abnormality of extrapyramidal motor funct... OMIM:109150
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Cerebellar atrophy... ORPHA:71517
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Sandhoff Disease
Kyphosis, Ataxia, Failure to thrive ORPHA:796
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Axonal loss, Gait disturbance, Abnormal upper motor neuron morphology, EEG abnormality, ... OMIM:221770
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Degeneration of anterior horn cells, Small for gestational age, Peripher... OMIM:604320
Valinemia
Hyperkinetic movements, Failure to thrive OMIM:277100
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Cerebellar hypoplasia, Cerebellar at... ORPHA:529665
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, EEG abnormality, Myoclonus, Optic atrophy, Spasticity OMIM:256730
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Abnormal autonomic nervous system physiology, Bradykinesia... ORPHA:329284
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ankle clonus, Ataxia, Lower limb spast... OMIM:618598
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Dense calcifications in the cerebellar dent... OMIM:213600
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Myoclonus, Failure to thrive, Optic atrophy, Choreoathetosis OMIM:609056
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myoclonus, Ataxia, Spasticity OMIM:545000
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of vincristine, Degeneration of ante... OMIM:118301
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Small for gestational age, P... OMIM:261640
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Polymicrogyria, Decreased circulating IgG level OMIM:618973
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Apraxia, Gait disturbance, EEG abnormality, Myoclonus, Babinski sign, CNS demyelination OMIM:618193
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Scoliosis, Dystonia, Tremor, Hyperlordosis, Speech apraxia, Difficulty walking... OMIM:615356
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Progressive inability to walk, Abnormal cerebellum ... OMIM:204200
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Cerebellar atrophy, Parkinsonism, Babinsk... OMIM:300423
Infantile Spasms Syndrome
Myoclonus, Hypsarrhythmia ORPHA:3451
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Glutathionuria
Tremor OMIM:231950
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Impaired tactile sensation, Difficulty walking, Gait disturbance, Impaired tem... ORPHA:90658
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Failure to thrive, Spasticity OMIM:618426
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination, Optic ... OMIM:610651
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Scoliosis, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Cerebellar... ORPHA:330050
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Peripheral demyelination, Kyphoscoliosis OMIM:616684
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Abnormality of the vertebral column, Abnormal vertebral morphology, Ataxia, Myoclonus, ... OMIM:250620
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Scoliosis, Short neck, Diffi... OMIM:611890
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Broad-based gait, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Kyp... ORPHA:3077
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Dystonia, Tremor, Loss of ability to walk, Rigidity OMIM:615010
Developmental And Epileptic Encephalopathy 1
Dystonia, Hypsarrhythmia, Erratic myoclonus, Hypertonia, EEG with burst suppression, Abnormal pyr... OMIM:308350
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Cerebellar atrophy,... OMIM:614153
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of