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Gene: Ccr10 MGI:1096320

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal ... OMIM:618404
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
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
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Paresthesia, Posi... OMIM:601098
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Cerebellar atrophy, Myoclonus... OMIM:616494
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:3115
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C... ORPHA:206594
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Sc... ORPHA:101075
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia, S... ORPHA:101078
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Inability to walk, Dec... ORPHA:99948
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Falls, Spontaneous pain sensation, Somatic sensory dysfunctio... ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Distal sensory impairment, ... OMIM:609260
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Decreased motor nerve conduction velocity, Gait imbalance, Paresthesi... ORPHA:101081
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Limb dystonia, ... OMIM:617560
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Ank... OMIM:615681
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Difficulty walking, Head titubation, Abn... ORPHA:527497
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal sensory impairment, Peripheral hypomyelination,... OMIM:609311
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Delayed CNS my... OMIM:619742
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor... OMIM:180800
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, CNS hypomyelination, Decreased motor nerve conduction velocity... OMIM:214400
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclon... OMIM:619862
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Cerebellar atr... OMIM:617951
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve co... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Scoliosis, Decreased motor nerve conduction velocity, Impaired pain sensation, Distal sensory imp... OMIM:607684
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Poor fine motor coordination, Impaired pain sensation, Tip-toe gait, Frequent f... ORPHA:435387
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, CNS hypomyelination, Somatic sensory dysfunction, Abnormal m... ORPHA:320401
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Cerebellar atrophy, Difficulty walking, EEG with generalized slo... ORPHA:79097
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio... ORPHA:352675
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Postural trem... OMIM:607694
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased amplitude of s... OMIM:618912
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Ca... ORPHA:300605
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Autonomic bladder dysfunc... ORPHA:447896
Autosomal Recessive Spastic Paraplegia Type 21
Spasticity, Difficulty walking, Abnormal cerebellum morphology, Abnormality of peripheral nerve c... ORPHA:101001
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Abnormality of peripheral nerve... ORPHA:431329
Giant Axonal Neuropathy
Spasticity, Falls, CNS hypomyelination, Difficulty walking, Abnormal cerebellum morphology, Dista... ORPHA:643
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Failure to thrive in infancy, Decreased nerve c... ORPHA:90103
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Spastic paraparesis, Decreased motor nerve conduction velocity, Leukodystrophy, In... OMIM:608804
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Scoliosis, Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Cerebellar atrophy, Difficu... OMIM:302800
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Cerebellar atrop... OMIM:607250
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Impaired vibration sensation in the lower limbs, Distal s... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased motor nerve conduction velocity, Impaired pain sensation, Decreased... OMIM:607706
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum, Scoliosis, Ataxia ORPHA:1188
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... OMIM:614561
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye... OMIM:612438
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Periphe... OMIM:605285
Hereditary Motor And Sensory Neuropathy V
Spasticity, Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairm... OMIM:600361
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... OMIM:159550
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... ORPHA:276435
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Spasticity, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Di... OMIM:612674
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Decreased number o... OMIM:618184
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating sensory neuropathy, Somatic sensory dysfunction, Abnormal motor evoked potentials, ... ORPHA:99939
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment, Paraparesis, Steppage gait, Scoli... OMIM:302802
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... DECIPHER:29
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Decreas... OMIM:608323
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... ORPHA:206443
Spastic Paraplegia 44, Autosomal Recessive
Spastic paraplegia, CNS hypomyelination, Dysmetria, Distal sensory impairment, Babinski sign, Low... OMIM:613206
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Steppage gait, Impaired distal tactile sensation, Onio... OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... OMIM:616688
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar ve... OMIM:614381
Hypertrophic Neuropathy Of Dejerine-Sottas
Tongue fasciculations, Broad-based gait, Decreased motor nerve conduction velocity, Peripheral de... OMIM:145900
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Babinski sign,... ORPHA:98890
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Abnormal nerve conduction velocity, Optic atrophy, Loss of Purkinj... ORPHA:98755
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B... OMIM:249900
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Decreased compound muscle action potential amplitude, Babinski sign, Chaddock... OMIM:619112
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Myoclonus, Loss of ambulation, EEG abnormality, Ataxia OMIM:600143
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment, Fasciculations OMIM:606595
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:99950
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fasciculations, Decreased... OMIM:600882
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:605588
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Myoclonus, Intention ... OMIM:618356
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor functio... ORPHA:289494
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Failure to thr... OMIM:238970
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:118210
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:601455
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Distal sensory impairment, Loss of ambulation, Gait disturba... OMIM:615284
Epilepsy, Progressive Myoclonic 7
EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelination, Decreased com... OMIM:618279
Hereditary Methemoglobinemia
Spasticity, Small for gestational age, Cerebellar atrophy, Limb dystonia, Cerebral hypomyelinatio... ORPHA:621
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Spasticity, CNS hypomyelination, Failure to thrive, Inability to walk, Delayed CNS myelination, E... OMIM:616577
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Head tremor, Positive Romberg sign, Unsteady gait, Impaired vib... ORPHA:101085
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia... OMIM:603516
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral hypomyelination, Abnormal pyramida... OMIM:300475
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Inability to walk, Lower limb spasticity, Delayed CNS myelination, Multifocal... OMIM:618468
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Spasticity, Leukodystrophy, Babinski sign, Spastic ataxia, Abnormal pyramidal sign... OMIM:616859
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Scoliosis, Decreased amplitude of s... OMIM:608673
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, EEG with photoparoxysmal res... OMIM:616230
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Cavitating leukodystrophy, Ataxia OMIM:619061
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Somatic sensory dysfunction,... OMIM:612577
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Difficulty walking, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:620111
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination, Spina bifida occulta, Babinski sign, Lower limb spasticity, Ataxia, Optic di... OMIM:615281
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Decreased number of... OMIM:607734
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Ataxia, Sensory, 1, Autosomal Dominant
Decreased amplitude of sensory action potentials, Dysesthesia, Abnormal cerebellum morphology, Po... OMIM:608984
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Developmental And Epileptic Encephalopathy 93
Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Inability to walk, Gait disturbance, Hyps... OMIM:618012
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Vocal cord paralysis, ... OMIM:162500
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Dystonia, Choreoathetosis, Leukodystrophy OMIM:614932
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Difficulty walking, Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten... ORPHA:308
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysmetria, Peripheral ... ORPHA:48431
Developmental And Epileptic Encephalopathy 78
Spasticity, CNS hypomyelination, Cerebral palsy, Inability to walk, Chorea OMIM:618557
Kaya-Barakat-Masson Syndrome
Spasticity, CNS hypomyelination, Cerebellar atrophy, Limb dystonia, Scoliosis, Spastic tetraplegia OMIM:619125
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance, Distal sensory i... ORPHA:99944
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, CNS hypomyelination, Cerebellar atrophy, Tetraparesis, Os od... OMIM:619260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:118220
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, CNS hypomyelination, Failure to thrive, Cerebellar atrophy, Cerebral hypomyelinati... ORPHA:369939
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, EEG with focal epile... ORPHA:599373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Cerebellar atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to... OMIM:615356
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... OMIM:607317
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Abnormal pyramidal sign, Abnormal cerebellum morphology ORPHA:85163
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Hypopituitarism, Increased circulating IgE level, Decreased circ... ORPHA:98813
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Tremor, Fascicul... ORPHA:65684
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Lower limb spasticity, Gait d... OMIM:611225
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambu... OMIM:256731
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Decreased motor nerve conduction velocity, Impaired vibration sensation in th... OMIM:270685
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination, Upper limb hypertonia, Inability to walk, Babinski sign, Short neck, Optic d... OMIM:619328
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
CNS hypomyelination, Inability to walk, Rigidity, Hypertonia, Scoliosis, Choreoathetosis OMIM:620023
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Decreas... OMIM:604563
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Developmental And Epileptic Encephalopathy 5
Hypsarrhythmia, CNS hypomyelination, Spastic tetraplegia, Cerebellar atrophy OMIM:613477
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Peripheral demyelination, Distal sensory impairment, D... OMIM:118200
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, C... ORPHA:280210
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Hyperkinetic movements, Delayed CN... OMIM:617493
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity, Distal sensory impairment, Babinski si... ORPHA:100998
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, CNS hypomyelination, Ataxia OMIM:619688
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore... OMIM:164400
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Inability to walk, Chorea, Myoclonus, Hyperkin... OMIM:614254
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity... OMIM:218000
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, EEG with burst suppression, Tremor, Cerebral hypomyelination, Delayed CNS mye... OMIM:612164
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Hypsarrhythmia, EEG abnormality, Dystonia, ... OMIM:618285
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move... OMIM:616981
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Obesity, Lumbar hyperlordosis, Lower limb spasticity, Ataxia... OMIM:616756
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, EEG abnormality, Ataxia, Dyston... OMIM:618218
Spinocerebellar Ataxia Type 2
Spinal cord posterior columns myelin loss, Fasciculations, Chorea, Postural tremor, Gait ataxia, ... ORPHA:98756
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Spasticity, Decreased motor nerve conduction velocity, Abolished vibration sense, Frequent falls,... OMIM:620068
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Distal sensory impairmen... OMIM:614436
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Steppage gait, Decreased compound muscle action potential amplitude, Dista... OMIM:613641
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, EEG abnormality, Ataxia, ... OMIM:617829
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Adenylosuccinase Deficiency
Spasticity, CNS hypomyelination, Cerebellar atrophy, Inability to walk, Hemiplegia, Gait ataxia, ... OMIM:103050
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Inability to ... OMIM:619576
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Scoliosis, Somatic sensory dysfun... ORPHA:101082
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Combined Oxidative Phosphorylation Defect Type 13
Failure to thrive, Decreased nerve conduction velocity, Limb dystonia, Delayed myelination, Chore... ORPHA:319514
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Impaired pain sensatio... ORPHA:139578
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal tactile sensation, Impaired distal vib... OMIM:616687
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Optic atrophy, EEG with irregular generalized spike and wave complexe... ORPHA:352596
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,... ORPHA:313772
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impa... OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebellar atrophy, F... OMIM:618186
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... OMIM:606777
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Leukodystrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity,... OMIM:617916
Dystonia 23
Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Tort... OMIM:614860
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Cerebral hypomyelination, Gait disturbance, CNS demyelination, Letharg... OMIM:603896
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na... OMIM:619802
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... OMIM:606353
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperkinetic movements, Delayed CNS myelination, EEG abnormality, Ataxia OMIM:271980
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Sialidosis Type 1
Abnormal form of the vertebral bodies, Decreased nerve conduction velocity, Myoclonus, Tremor, Ga... ORPHA:812
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... OMIM:613728
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Krabbe Disease
Optic atrophy, Failure to thrive, Decreased nerve conduction velocity, Peripheral demyelination, ... OMIM:245200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Impaired vibra... OMIM:614409
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Loss of ambulation, Ataxia,... OMIM:614018
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Decreased motor nerve conduction velocity, Hand tremor, Distal sensory imp... OMIM:162400
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Impaired pain sensati... ORPHA:99949
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Scoliosis, Cerebellar atrophy, Inability to walk, Myoclonus, Rigidity, Loss of amb... OMIM:618241
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa... OMIM:300423
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Abnormal pyramidal sign, Leukodystrophy, Ataxia OMIM:619196
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Pseudobulbar paralysis, Difficulty walking, Dysmetria, Dystonia, Cerebral hypomyelination, Lower ... ORPHA:438114
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... OMIM:118300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Abnormal motor evoked potentials, Difficulty walking, Impaired tactile sensation, Abn... ORPHA:98
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p... ORPHA:90117
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Spasticity, Delayed CNS myelination OMIM:618185
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Failure to thrive, Leukodystrophy, Gait ataxia, Intention tremo... OMIM:617964
Retinal Dystrophy With Leukodystrophy
Truncal titubation, CNS hypomyelination, Falls, Dysmetria, Waddling gait OMIM:618863
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... ORPHA:98763
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Babinski sign, Decreased compound muscle action potential amplitude, Decreased motor nerve conduc... OMIM:605726
Adult Krabbe Disease
Spasticity, Broad-based gait, Tetraparesis, Peripheral demyelination, Impaired tactile sensation,... ORPHA:206448
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Decreased number of large periphera... OMIM:617087
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Combined Saposin Deficiency
Optic atrophy, Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, CNS demyelination OMIM:611721
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, CNS hypomyelination, Kyphosis, Leukodystrophy, Hypoplasia of the pons, Cerebellar ... OMIM:619708
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... OMIM:611302
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action... ORPHA:457205
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Tip-toe gait, Decreased nerve conduction velocity, Leg dystonia, Abnormal ... ORPHA:565624
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, CNS hypomyelination, Inability to walk, Myoclonus, Delayed CNS myelination OMIM:616158
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis... OMIM:613724
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function, Parkinso... OMIM:162350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait ataxia, Myoclonus, ... ORPHA:248111
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal pyramidal sign, ... OMIM:256600
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebellar atrophy, Interictal EEG abnormality, Chorea, Myoclonus, Dysmetria, Tremor,... ORPHA:79263
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Cerebellar atrophy, Babinski sign, Delayed CNS myelination, Scoliosis, Waddling gait OMIM:619090
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Spasticity, Tip-toe gait, Leukodystrophy, Decreased nerve conduction velocity, Gai... ORPHA:309256
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio... OMIM:605253
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Peripheral ... ORPHA:397946
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Tetraparesis, Decreased nerve conduction veloci... ORPHA:85446
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Unsteady gait, Tr... ORPHA:314978
Leukodystrophy, Hypomyelinating, 10
Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Inability to walk, Hyperkinet... OMIM:616420
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Herniation of intervertebral nuclei, Abnormality of peripheral nerve conducti... ORPHA:101005
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, CNS hypomyelination, Hand apraxia, Difficulty walking, Inability to walk, Ba... ORPHA:280229
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, ... OMIM:620158
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Leukodystrophy, Difficulty walking, Abnormal cerebellum morphology, Babinski sign, At... OMIM:618242
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria,... OMIM:617810
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demyelination, Babinski si... OMIM:250100
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, EEG with burst suppression, Myoclonus, Cerebellar hypoplasia, Ataxia, Erratic... OMIM:619971
Developmental And Epileptic Encephalopathy 40
Spasticity, Small for gestational age, Myoclonus, Lethargy, Hypsarrhythmia, Spastic tetraparesis,... OMIM:617065
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Optic Atrophy 11
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Dysmetria, Hyperkinetic movements, Ce... OMIM:617302
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Impaired vibration sensation in the lower limbs, Peripheral demy... OMIM:609033
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... ORPHA:521406
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function,... OMIM:615362
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Myoclonus, Gait ataxia, Hemipar... OMIM:123400
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb ataxia, Gait ataxia... OMIM:615157
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Decreased body weight, Hyperkinetic... ORPHA:561854
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased n... OMIM:607831
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Chiari type I malformation, EEG abnormality, Ataxia, Dystonia OMIM:617836
Friedreich Ataxia
Optic atrophy, Spasticity, Falls, Decreased motor nerve conduction velocity, Inability to walk, C... ORPHA:95
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Scoliosis, Decreased compound muscle action potential amplitude, Distal sensory impairment, Impai... OMIM:619519
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, ... OMIM:606002
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:169160
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Cataplexy, Inabili... OMIM:617193
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic movem... OMIM:619317
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... ORPHA:423275
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral demyelination, Peripheral hypomyeli... OMIM:604168
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
CNS hypomyelination, Cerebellar atrophy, Inability to walk, Gait ataxia, Opisthotonus, Delayed CN... OMIM:619580
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Hypoplasia of the pons, Hand tremor, Fasciculations, Limb ataxia, Cerebell... OMIM:607596
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Spasticity, Leukodystrophy, Decreased nerve conduction velocity, Dystonia, Clumsin... ORPHA:309263
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, EEG abnormality, Hypert... ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Spasticity, Leukodystrophy OMIM:616370
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Failure to thrive, Abnormal motor nerve conduction velocity, Diaphragmatic... OMIM:614399
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked potentials, Parkinsonism, ... ORPHA:909
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, CNS hypomyelination, Failure to thrive, Difficulty walking, Inability to walk, Thorac... ORPHA:481152
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Cerebellar atrophy, Difficulty walking, Impaired vibration sensation in the lower ... ORPHA:137898
Lissencephaly 8
Optic atrophy, Appendicular spasticity, Cerebellar hypoplasia, Cerebral hypomyelination, Retrocer... OMIM:617255
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Babinski sign, Ataxia, Op... OMIM:618527
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Developmental And Epileptic Encephalopathy 17
Inability to walk, EEG with burst suppression, Chorea, Delayed CNS myelination, Hypsarrhythmia, D... OMIM:615473
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Myoclonus, Ataxia OMIM:204500
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Tetraparesis... OMIM:615491
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Focal EEG discharges with secondary generaliza... ORPHA:263516
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... OMIM:615127
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Myoclonus,... OMIM:619303
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Dysmetria, Ankle clonu... OMIM:612319
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Leukodystrophy, Hypomyelinating, 17
Cerebellar atrophy, Leukodystrophy, Inability to walk, Kyphoscoliosis, Hypsarrhythmia OMIM:618006
Huppke-Brendel Syndrome
Inability to walk, CNS hypomyelination, Cerebellar atrophy OMIM:614482
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... ORPHA:2590
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun... OMIM:607346
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Somatic sensory dysfunction, Fasciculations, Ankle clonus, Scoliosis OMIM:620323
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Cerebellar atrophy, Gait... OMIM:617225
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diplegia, Tremor,... ORPHA:329478
Myoclonic-Atonic Epilepsy
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus, Scoliosis OMIM:616421
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:613287
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Spasticity, Leukodystrophy, Difficulty walking, Decreased nerve conduction velocit... ORPHA:309271
Spinocerebellar Ataxia 12
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... OMIM:604326
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Inab... ORPHA:98856
Pelizaeus-Merzbacher Disease, Transitional Form
Spastic tetraparesis, CNS hypomyelination ORPHA:280224
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:608895
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials, Ataxia ORPHA:1933
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Spasticity, CNS hypomyelination, Babinski sign, Hypsarrhythmia, Optic disc pallor OMIM:618437
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, CNS hypomyelination, Failure to thrive, Chorea, Limb dystonia OMIM:616339
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Dystonia, Spasticity, CNS hypomyelination, Cerebellar atrophy OMIM:619286
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Developmental And Epileptic Encephalopathy 72
Inability to walk, Delayed CNS myelination, Hypsarrhythmia, Hyperkinetic movements OMIM:618374
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Developmental And Epileptic Encephalopathy 86
Dystonia, CNS hypomyelination, Small for gestational age OMIM:618910
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathet... OMIM:301020
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Failure to thrive, Cerebellar atrophy, CNS demyelination, Dystonia, Spas... OMIM:618237
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... OMIM:213600
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG with polyspike wave co... OMIM:618587
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Cerebellar atrophy, Gait ataxia, Babinski sign, Decrea... OMIM:616192
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Di... ORPHA:101076
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Alexander Disease
Spasticity, Dysmetria, Abnormal dentate nucleus morphology, Babinski sign, Diffuse demyelination ... OMIM:203450
Mepan Syndrome
Optic atrophy, Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Chorea, Myoclonus... ORPHA:508093
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis, Waddling gait OMIM:618138
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Ddost-Cdg
Failure to thrive, CNS hypomyelination, Oromotor apraxia, Tremor ORPHA:300536
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... ORPHA:3095
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Ataxia, Interictal e... OMIM:254800
Developmental And Epileptic Encephalopathy 56
Broad-based gait, EEG with polyspike wave complexes, Action tremor, EEG abnormality, Ataxia, Poor... OMIM:617665
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... OMIM:164500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... OMIM:208920
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance, Truncal obesity ORPHA:2928
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Decreased compound muscle act... OMIM:620528
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, P... ORPHA:216873
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, CNS hypomyelination, Failure to thrive, Myoclonus, Spastic tetraparesis, Delayed m... OMIM:614261
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Infantile Neuroaxonal Dystrophy
Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Abnormality of peripheral nerve conduction... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Inability to walk, Myoclonus, Pontocerebellar atrophy, Dystonia, Cl... OMIM:617854
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis, Difficulty walking, Decreased nerve conduction... ORPHA:600
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Head titubation, Delayed CNS myelination... OMIM:618688
Leukoencephalopathy, Cystic, Without Megalencephaly
Spasticity, Ataxia, Abnormal CNS myelination, Dystonia, Athetosis OMIM:612951
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Gait imbalance, Gait ataxia, Cerebellar hypoplasia, EEG with focal spikes, Se... ORPHA:488635
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cerebellar hypoplasia, CNS hypomyelination OMIM:620425
Sandhoff Disease, Juvenile Form
Acroparesthesia, Failure to thrive, Cerebellar atrophy, Fasciculations, Incoordination, Abnormali... ORPHA:309162
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Spastic dysarthria, Leukodystrophy, Myoclonus, Babinski sign, Loss of ability to w... ORPHA:401866
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Delayed CNS myelination, Ataxia OMIM:300983
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dy... OMIM:617435
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Friedreich Ataxia
Impaired vibratory sensation, Optic atrophy, Decreased amplitude of sensory action potentials, Li... OMIM:229300
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal ... ORPHA:33445
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Decreased nerve conduction velocity, Peripheral demyelination, S... OMIM:609136
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Developmental And Epileptic Encephalopathy 97
Inability to walk, Hypsarrhythmia, Tremor OMIM:619561
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... OMIM:619738
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic atrophy, Decreased motor nerve conduction velocity, Lumbar hyperlordosi... OMIM:601152
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sig... ORPHA:477673
Sandhoff Disease
Ataxia, Spasticity, CNS hypomyelination, Fasciculations, Impaired temperature sensation, Orthosta... OMIM:268800
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Failure to thrive, Tetraparesis, Gait ataxia, Cogwheel rigidity, Myocl... ORPHA:225154
Yuan-Harel-Lupski Syndrome
Broad-based gait, Failure to thrive, Decreased nerve conduction velocity, Gait ataxia, Distal sen... OMIM:616652
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo... OMIM:617145
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Difficulty walking, Incoordination, Chorea, Myoclonus, Babinski sign, Cl... OMIM:500003
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Ataxia, Abnormal CNS myel... OMIM:610651
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem... ORPHA:330050
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Difficulty walking, Abnormal... ORPHA:442835
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Difficulty walking, Impaired tactile sensation, Abnormal myelination, Impaired vibratory sensatio... ORPHA:466768
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, G... OMIM:210000
Combined Oxidative Phosphorylation Deficiency 45
Short neck, Failure to thrive, Tremor, Ataxia OMIM:618951
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Myoclonus, Babinski sign, Apraxia, Gait disturbance, CNS demyelination, EEG abnormality OMIM:618193
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... OMIM:604484
Developmental And Epileptic Encephalopathy 44
Spasticity, Cerebellar atrophy, Failure to thrive, Delayed CNS myelination, Dystonia, Athetosis OMIM:617132
Allan-Herndon-Dudley Syndrome
Spastic paraplegia, Leukodystrophy, Inability to walk, Babinski sign, Delayed CNS myelination, Cl... OMIM:300523
Charcot-Marie-Tooth Disease Type 1E
Acroparesthesia, Difficulty walking, Inability to walk, Impaired vibration sensation in the lower... ORPHA:90658
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... ORPHA:500180
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Kyphosis, Failure to thrive, Ataxia OMIM:620007
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Epilepsy, Progressive Myoclonic, 9
Frequent falls, Myoclonus, Gait ataxia, Action myoclonus, Scoliosis OMIM:616540
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to... OMIM:616881
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Scoliosis, Difficulty walking, Myoclonus, Tremor, Facial palsy, Frequent f... OMIM:159950
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Cerebellar atrophy, Inability to walk, Appendicular spasticity, Delayed CNS myelin... OMIM:618324
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ven