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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
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
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
Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio... OMIM:618404
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Null Syndrome
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Inability to wa... ORPHA:280234
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Decreased nerve conduction velocity, Gait dist... ORPHA:101078
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Demyelinating motor neuropathy, Motor conducti... ORPHA:206594
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... ORPHA:2932
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Kyphoscoliosis, Sensory ataxia, Distal sensory impairm... ORPHA:101081
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve co... ORPHA:101075
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Impaired pain sensation, Impaired distal proprioception, Inabilit... ORPHA:99948
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia, Scoliosis OMIM:213000
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Charcot-Marie-Tooth Disease, Type 4H
Waddling gait, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinat... OMIM:609311
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... OMIM:618912
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Lumbar hyperlordosis, Impaired pain sensation, Decreased nerve conduction veloc... ORPHA:435387
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Hand tremor... ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Optic atrophy, Gait disturbance, ... ORPHA:99014
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Steppage gait, Scoli... OMIM:302802
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased number of peripheral mye... OMIM:302800
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Distal sensory... OMIM:600361
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dysme... OMIM:270550
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Ataxia-Deafness-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Decreased nerve conduction velocity, Ataxia, Scoliosis ORPHA:1188
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Decreased number of pe... OMIM:607706
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio... OMIM:159550
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction velocity, Decr... OMIM:607250
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis... OMIM:619742
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Demyelinating sensory neuropathy, Decreased nerve conduction velocit... ORPHA:99939
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, EEG abnormality, Myoclonus, Loss of ambulation OMIM:600143
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Impaired pain sensation, Impaired distal proprioception, Decreased ... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Distal sensory impairment OMIM:606595
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal cerebellum morphology, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapy... ORPHA:101001
Cataract-Ataxia-Deafness Syndrome
Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia ORPHA:1368
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... OMIM:238970
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Steppage gait, Im... OMIM:610100
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... ORPHA:206443
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy... OMIM:612674
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis ORPHA:640
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... ORPHA:431329
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity ORPHA:217012
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Kyphosco... ORPHA:99950
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdia... OMIM:618356
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, Gait disturb... OMIM:616230
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased distal sensory... ORPHA:99953
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... OMIM:249900
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Imp... ORPHA:98755
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Demyelinating motor neuropathy, Impaired proprioception, Han... ORPHA:101085
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Scoliosis, Loss... OMIM:615284
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... OMIM:611225
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude, Babinski sign, Difficulty walking, Frequent... OMIM:619112
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri... ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4D
Kyphoscoliosis, Impaired distal proprioception, Abnormal auditory evoked potentials, Decreased ne... OMIM:601455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment OMIM:620111
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Difficult... OMIM:608323
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, ... OMIM:612577
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... OMIM:608804
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:302801
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Truncal titubation, Abnormal cerebellum morphology, Ba... OMIM:610532
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking OMIM:615575
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi... OMIM:618279
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Impaired dista... OMIM:270685
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nerv... OMIM:256731
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... OMIM:162500
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Delayed myelination, Spa... ORPHA:599373
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:214400
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Lethargy, Sp... OMIM:617829
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... OMIM:616981
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... OMIM:606777
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity, Leukodystrophy, Dystonia OMIM:614932
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i... ORPHA:99944
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, ... OMIM:618285
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, EEG abnormality, Hyperkinetic ... OMIM:618218
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, EEG abnormality, Hyperkinetic m... OMIM:614254
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... OMIM:164400
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... OMIM:616494
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... OMIM:613728
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... OMIM:614436
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... OMIM:608673
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Babinski sign, Spasti... ORPHA:139578
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign,... OMIM:614409
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation, EEG with spike-wave... OMIM:614018
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Abolished vibration sense, Scoliosis, Spasticity, Freq... OMIM:620068
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Inability to walk, Decreased nerve conduction ... OMIM:218000
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... OMIM:619802
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... ORPHA:98756
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, D... ORPHA:401820
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Delayed CNS myelination, Involuntary movements, Chorea, Multifocal epileptifo... OMIM:617493
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... OMIM:605259
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory i... OMIM:618387
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Sialidosis Type 1
Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Slurred speech, Abnormal form of t... ORPHA:812
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, EEG abnormality, Dysdiadocho... ORPHA:313772
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... OMIM:616687
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progres... ORPHA:248111
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Abnormal motor nerve conduction velocity, Babinski sign, Distal sensory impairme... ORPHA:100998
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio... OMIM:162350
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... OMIM:118300
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,... ORPHA:319514
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Myoclonus, Leth... OMIM:617065
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Head tremor... OMIM:613724
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Somatic sensory dysfunction, Scoliosis, Peripheral dysmyelin... ORPHA:101082
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618261
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Abnormal pyramida... OMIM:256600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Br... ORPHA:521406
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... OMIM:613641
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, G... OMIM:618241
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of ... OMIM:610743
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Decreased number of large peripheral myelinated nerve fibers, Kyphosis, Optic ... OMIM:617087
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Intention tremor, ... ORPHA:98
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ... ORPHA:48431
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria,... ORPHA:79263
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Impaired ... OMIM:162400
Progressive Myoclonic Epilepsy With Dystonia
Delayed CNS myelination, EEG with irregular generalized spike and wave complexes, Abnormal pyrami... ORPHA:352596
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... OMIM:123400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,... ORPHA:457205
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hypertonia, Decerebrate rigi... OMIM:245200
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, De... ORPHA:99949
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, L... OMIM:617916
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Optic disc pallor, Involuntary movements, Decreased nerve conduction veloc... ORPHA:565624
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, Decrea... OMIM:615758
Spastic Paraplegia 70, Autosomal Recessive
Somatic sensory dysfunction, Ankle clonus, Fasciculations, Scoliosis, Spasticity OMIM:620323
Wild Type Abeta2M Amyloidosis
Abnormal intervertebral disk morphology, Dysesthesia, Abnormality of the vertebral endplates, Dec... ORPHA:85446
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Limb atax... OMIM:607136
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, EEG abnormality, Hypertonia, M... ORPHA:71277
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Ataxia, Myoclonus OMIM:204500
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnorma... OMIM:617810
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Delayed CNS myelination, Ataxia, EEG abnormality, Hyperkinetic movements OMIM:271980
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Ataxia, EEG with burst suppression, Spastic tetraplegia, Cerebellar hypoplasi... OMIM:619971
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple... OMIM:619317
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... OMIM:213200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Friedreich Ataxia
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Impaired pro... ORPHA:95
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec... OMIM:300423
Foxg1 Syndrome
Dystonia, Kyphoscoliosis, Inability to walk, Delayed myelination, Choreoathetosis, Hyperkinetic m... ORPHA:561854
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, EEG abnormality, Dystonia OMIM:617836
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
Combined Saposin Deficiency
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations, CNS demyelination OMIM:611721
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... OMIM:607596
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Impaired... OMIM:606002
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... ORPHA:13
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioceptio... OMIM:609033
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... ORPHA:276
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Frequent f... OMIM:301020
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... OMIM:618587
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Focal EEG discharges with secondary generalizatio... ORPHA:263516
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Eyelid myoclonus, Scoliosis OMIM:616421
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ... ORPHA:254343
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Myoclonus, Interictal epileptiform activity, EEG with ... OMIM:254800
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Li... ORPHA:3095
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Ataxia, Kyphoscoliosis, Chorea, Babinski sign, Periphe... OMIM:604168
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... ORPHA:2590
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Cervical spondylosis, Abnormal lumbar spine morphology, Herniati... ORPHA:101005
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Clumsiness, Focal... ORPHA:216873
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, EEG with burst suppression, Optic atrophy, Cerebellar... OMIM:619303
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... OMIM:617665
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Diaphragmatic paralysis ORPHA:868
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia, Short neck OMIM:618951
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Gait ataxia, Progr... ORPHA:309256
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle... OMIM:617435
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... ORPHA:93952
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations OMIM:620007
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Scoliosis, Action myoclonus, Frequent falls OMIM:616540
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... ORPHA:228360
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Spasticity, Gait ataxia, Ch... ORPHA:225154
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Gait disturbance, Fasciculat... ORPHA:309162
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, EEG with focal sharp waves... OMIM:617302
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... ORPHA:101076
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... ORPHA:319199
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:613287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis, Decreased nerve conduction velocity OMIM:618138
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Decreased number of large peripheral myelinated ner... OMIM:208920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Cerebrotendinous Xanthomatosis
Abnormal pyramidal sign, Abnormal motor evoked potentials, Thoracic kyphosis, Abnormal cerebellar... ORPHA:909
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:608895
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Hypsarrhythmia OMIM:619561
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Delayed peripheral myelination, Kyphosis,... ORPHA:464282
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dys... OMIM:612438
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Gait ataxi... ORPHA:500180
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal ... ORPHA:33445
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Babinski sign, Sensory ataxia, Gai... OMIM:616192
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Parkinsonism, Tremor, Decreased nerve conduction velocity, Facial diplegia, Fasciculat... ORPHA:329478
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Scolio... OMIM:619519
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Abnormality of the cerv... ORPHA:306511
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Gait disturbance ORPHA:2928
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Optic atrophy, Dysmetria, Gait ... OMIM:210000
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia, Cachexia ORPHA:1933
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... ORPHA:276198
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walk... OMIM:159950
Congenital Disorder Of Glycosylation, Type In
Ataxia, Short neck, Myoclonus, Spasticity, Failure to thrive OMIM:612015
Developmental And Epileptic Encephalopathy 72
Inability to walk, Delayed CNS myelination, Hyperkinetic movements, Hypsarrhythmia OMIM:618374
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... ORPHA:309263
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... OMIM:615290
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology, Palatal tremor... OMIM:203450
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Delayed CNS myelination, Ataxia, Inability to walk, Para... OMIM:617854
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Multifocal epileptiform discharges, Choreoathetosis, Myoclonus, Failure to thrive OMIM:609056
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hand tremor, Distal sensory impairment, D... OMIM:604484
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Kyphoscoliosis OMIM:619099
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Diffic... ORPHA:330050
Congenital Myopathy 10A, Severe Variant
Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paralysis, Tongue fascicula... OMIM:614399
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, CNS hypomyelination, Upper limb s... ORPHA:300605
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... ORPHA:309271
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... ORPHA:275
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Abnormality of the vertebral column, Myoclonus, Tru... OMIM:250620
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... OMIM:616505
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS... OMIM:607694
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Dystonia OMIM:619065
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Lumbar hyperlordosis, Optic atrophy... OMIM:601152
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tre... ORPHA:363717
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ... ORPHA:284289
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... ORPHA:88628
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Dystonia, CNS demyelination, Fa... OMIM:618237
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Optic atrophy, Limb... OMIM:229300
Episodic Ataxia, Type 5
Ataxia, EEG with generalized spikes, Myoclonus, Truncal ataxia, Episodic ataxia, EEG with spike-w... OMIM:613855
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis ORPHA:85317
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity OMIM:300983
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign... OMIM:300055
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) OMIM:616366
Yuan-Harel-Lupski Syndrome
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment, ... OMIM:616652
Isaacs Syndrome
EEG abnormality, Weight loss, Fasciculations, Distal sensory impairment ORPHA:84142
Mepan Syndrome
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait d... ORPHA:508093
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, EEG with generalized polyspikes, Continuous spike and waves during slow... ORPHA:725
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... ORPHA:391417
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Hyperlordosi... OMIM:128100
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Hand tremor, Myoc... OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory... ORPHA:600
Hereditary Geniospasm
EEG abnormality, Chin myoclonus, Intention tremor ORPHA:53372
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Decreased c... OMIM:615577
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Cerebellar atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babins... ORPHA:88644
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Polymicrogyria OMIM:618973
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:618497
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, Distal sensory impairment, Sco... OMIM:618124
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Sciatica, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, EEG abnormality, Ataxia, Gait ataxia OMIM:617831
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Spasticity, Ataxia, Tremor OMIM:278780
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... OMIM:617404
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi... OMIM:615356
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, My... OMIM:606703
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi... ORPHA:401866
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Paraparesis, Rigidity, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Par... OMIM:109150
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Spastic paraplegia, Bab... OMIM:256840
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Charcot-Marie-Tooth Disease Type 1E
Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Impaired ... ORPHA:90658
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... ORPHA:99802
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myoclonus OMIM:545000
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Paraparesis, Rigidity, Babinski sign, Spasti... OMIM:606693
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Optic atrophy, EEG abnormality, Myoclonus, Spasticity OMIM:256730
Infantile Spasms Syndrome
Myoclonus, Hypsarrhythmia ORPHA:3451
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal ... ORPHA:280219
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Short ne... OMIM:619026
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... OMIM:617282
Cdkl5-Deficiency Disorder
Impaired pain sensation, Kyphosis, Multifocal epileptiform discharges, Gait disturbance, Difficul... ORPHA:505652
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, EEG abnormality, Gait disturbance, Myoclonus, Apraxia, CNS demyelination OMIM:618193
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Inability to walk, Paraparesis, Chorea, Abnormal pyramidal sign, Babinski... OMIM:607483
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnorm... ORPHA:329284
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Cednik Syndrome
Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction ORPHA:66631
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokinesis, Progressive gai... ORPHA:289494
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Cerebellar hy... ORPHA:529665
Valinemia
Failure to thrive, Hyperkinetic movements OMIM:277100
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204300
Developmental And Epileptic Encephalopathy 109
Delayed CNS myelination, Spasticity, Gait ataxia, Myoclonus, Crouch gait, Failure to thrive OMIM:620145
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... ORPHA:363722
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... OMIM:205100
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Myoclonus, Hand tremor ORPHA:86814
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... OMIM:117360
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Fa... OMIM:619556
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi... OMIM:614381
Hyperphenylalaninemia, Bh4-Deficient, B
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia OMIM:233910
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Developmental And Epileptic Encephalopathy 27
Chorea, Hypsarrhythmia, Myoclonus, Dystonia, Spasticity OMIM:616139
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... ORPHA:466768
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Limb tremor, Hypertonia, Myoclonus, Interictal epileptiform activity, Slender build OMIM:300699
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Decreased nerve conduction velocity, Diaphragmatic paralysis, Degenera... OMIM:604320
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Agammaglobulinemia, X-Linked
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea... OMIM:300755
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal CNS myel... OMIM:610651
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus, Interictal epileptiform activity OMIM:615400
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Abnormal pyr... ORPHA:35069
Myoclonus, Intractable, Neonatal
Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation OMIM:617235
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neur... OMIM:611890
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... OMIM:614153
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Morning myoclonic jerks, Myoclonus, Truncal ataxia, Episodic a... OMIM:607682
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve ... ORPHA:206436
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Chorea, Unsteady gait, Delayed myelination, Progressive cerebellar ataxia,... ORPHA:485350
Developmental And Epileptic Encephalopathy 16
Delayed myelination, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, My... OMIM:615338
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait OMIM:303350
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Abnormal cerebellum morphology, Optic atrophy, Abnormality of extrapyramidal motor ... OMIM:204200
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... OMIM:137440
Multiple System Atrophy
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:102
Gm1-Gangliosidosis, Type Iii
Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar ... OMIM:230650
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal ... OMIM:619574
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... ORPHA:1187
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Abnormal cerebellum morphology, Babins... OMIM:275900
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations OMIM:608030
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesi... ORPHA:53351
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... ORPHA:477673
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... OMIM:618877
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Huntington Disease
Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Weig... ORPHA:399
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Unsteady gait, Failure to thrive, Myoclonus OMIM:610090
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... ORPHA:227510
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, EEG abnormality, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron... OMIM:221770
Mitochondrial Complex I Deficiency, Nuclear Type 31
Failure to thrive, Myoclonus, Dysmetria OMIM:618251
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Acromicric Dysplasia
Decreased nerve conduction velocity, Ovoid vertebral bodies ORPHA:969
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... OMIM:619725
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Babinski sign, CNS hypom... OMIM:618186
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Optic atrophy, Gait atax... OMIM:620089
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... ORPHA:98759
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Focal EEG ... ORPHA:3077
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:98933
Spinocerebellar Ataxia Type 10
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri... ORPHA:98761
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Cerebellar hypoplasia, Dys... OMIM:619422
Lennox-Gastaut Syndrome
EEG abnormality, EEG with focal sharp slow waves, Falls, Myoclonus ORPHA:2382
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Thoracic kyphosis, Fasciculations ORPHA:206546
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Delayed CNS myelination, Ataxia, Myoclonus, Dystonia, Spasticity OMIM:620094
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity, Failure to... OMIM:248800
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Early Myoclonic Encephalopathy
EEG abnormality, Lethargy, Myoclonus, Hypsarrhythmia ORPHA:1935
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Paresthesia, Abnormality of extrapyrami... ORPHA:356
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Developmental And Epileptic Encephalopathy 1
Delayed CNS myelination, Dystonia, Spastic tetraparesis, EEG with burst suppression, Abnormal pyr... OMIM:308350
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... ORPHA:282166
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Kyphoscoliosis, Difficulty walking, Dystonia, Peripheral demyelination OMIM:616684
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations OMIM:613435
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Cerebellar vermis... OMIM:617988
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus OMIM:619092
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Tongue fasciculations, Leukodystrophy OMIM:619851
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity ORPHA:2429
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Abnormal pyramidal sign, Spastic tetrap... OMIM:615419
Spinocerebellar Ataxia 21
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Akinesia, Postural tremor, Lim... OMIM:607454
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... ORPHA:485421
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Scoliosis ORPHA:306669
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... ORPHA:99750
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... ORPHA:320375
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block ORPHA:641
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... ORPHA:98805
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Truncal ataxia, Hyperkinetic... OMIM:300243
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Cerebellar d... ORPHA:457240
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait disturban... ORPHA:512
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... OMIM:618048
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Cerebellar hypoplasi... ORPHA:280210
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Multifocal epileptiform discharges, EEG with generalized ... ORPHA:33069
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Leukodystrophy, Lethargy, Spasticity OMIM:618225
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity OMIM:618323
Perioral Myoclonia With Absences
Chin myoclonus, EEG with spike-wave complexes, Falls ORPHA:139426
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Gait di... ORPHA:702
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Neuromyotonia, Fasciculations, Distal sensory impairment OMIM:137200
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... ORPHA:79139
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal... OMIM:300623
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis OMIM:271200
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Clumsiness, B... ORPHA:352582
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with polyspike wave complexes, Cerebellar vermis hypoplasia, Failure to thrive in infancy, Sp... ORPHA:284417
Developmental And Epileptic Encephalopathy 54
EEG abnormality, Delayed myelination, Myoclonus OMIM:617391
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inab... OMIM:619653
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal au... OMIM:300894
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Cerebellar h... OMIM:225753
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Abnormal autonomic nervous ... ORPHA:97229
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,... ORPHA:331235
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... OMIM:301830
Peho-Like Syndrome
Cerebellar atrophy, Optic atrophy, Myoclonus, Hypsarrhythmia OMIM:617507
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Truncal ataxia, Hyperkinetic movements, Difficulty walking, Scoliosis ORPHA:369847
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple... OMIM:612164
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failure to thrive OMIM:236270
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, EEG abnormality, Scoliosis ORPHA:2047
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co... OMIM:201300
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Hypsarrhythmia, Abnormality of extrapyramidal mot... ORPHA:204
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dy... OMIM:617664
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Posttransplant Acute Limbic Encephalitis
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Myoclonus, ... ORPHA:163921
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, EEG with generalized slow activity, Ataxia, Inability to walk, EEG with photo... ORPHA:168491
Smith-Kingsmore Syndrome
Perisylvian polymicrogyria, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Failure to thrive in in... ORPHA:477817
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Delayed CNS myelination, Ataxia, EEG with burst suppression, S... OMIM:619913
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... OMIM:243000
Reticular Dysgenesis
Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:33355
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Facial palsy, Abnormal cerebellum morphology, Kyphosis, Vocal cord paralysis, Clumsiness,... OMIM:211530
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia, Horner syndrome OMIM:141300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Tip-toe gait, Scolio... OMIM:606612
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy OMIM:312170
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Abnormal pyramidal sign, Abnormal vertebral morphology, Spina... ORPHA:93476
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Decreased number of large peripheral myelina... ORPHA:298
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, EEG with spike-wave c... ORPHA:36387
Rett Syndrome
Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, EEG abnormality, Scoliosis, Truncal atax... OMIM:312750
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ataxia, F... ORPHA:456312
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Obes... ORPHA:98794
Hyperekplexia 4
Hypertonia, Myoclonus, Kyphoscoliosis, Hypsarrhythmia OMIM:618011
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis ORPHA:397744
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... ORPHA:79330
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Small for gestational age, Inability to walk, Athetos... OMIM:612073
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... OMIM:613640
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis OMIM:300635
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls OMIM:300718
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... ORPHA:240094
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, ... ORPHA:171629
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, CNS hypomyelination, Hyperkinetic movements, Leukodystrophy, Sp... OMIM:616420
Warburg Micro Syndrome 4
Cerebellar atrophy, Decreased motor nerve conduction velocity, Inability to walk, Babinski sign, ... OMIM:615663
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Gaucher Disease, Type Iii
Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight OMIM:231000
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, ... OMIM:617710
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Short neck, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnormali... OMIM:615673
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Small for gestational age, Abnormal auditory evoked potentials... OMIM:133540
Neuroferritinopathy
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... ORPHA:157846
Episodic Ataxia Type 1
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait,... ORPHA:37612
Microtriplication 11Q24.1
Speech apraxia, Short neck, Obesity, Retrocerebellar cyst, Hyperkinetic movements, Scoliosis ORPHA:289522
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... OMIM:608627
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials,... OMIM:216400
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Inability to walk, Vocal... ORPHA:99956
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... ORPHA:97349
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Kyphosis, Abnormal sacrum morphology,... ORPHA:324737
Baralle-Macken Syndrome
Inability to walk, Kyphosis, Obesity, Dystonia, Spasticity OMIM:619255
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Babinski sign, Optic atrophy, Myoclonus, Truncal ataxia, Spasticity OMIM:252011
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Jeavons Syndrome
EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with photoparoxysmal response... ORPHA:139431
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... OMIM:620210
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... OMIM:613011
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Facial-ling... ORPHA:276244
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Olivopontocerebellar hypoplasia ORPHA:166063
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cerebral dysmyelination, Gait dist... ORPHA:191
Alpha-Heavy Chain Disease
Splenomegaly, Dysgammaglobulinemia, Anemia ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Hypsarrhythmia, Myoclonus, Decreased body weight, Failure to thrive OMIM:619060
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Ataxia, Gait disturbance OMIM:614863
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Babinski sign, Impa... ORPHA:79138
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypersplenism, Splenomegaly, Hypothyroidism, Hashimoto thyroiditis, Decreased circu... OMIM:613385
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum ORPHA:1192
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Decreased compound... OMIM:602433
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Opisthotonus, Gait ataxia, CNS hypomyelination, Myoclonus,... OMIM:103050
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus OMIM:619780
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... ORPHA:36386
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... OMIM:615559
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, EEG abnormality, Scoliosis, Scheuermann-like vertebral changes, Cervical spina... OMIM:301900
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spas... OMIM:609541
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Thyrocerebrorenal Syndrome
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Chorea, Multifocal epileptiform discharges, Opisthotonus, Cerebella... OMIM:616672
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... ORPHA:52368
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... ORPHA:363400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Ataxia, Dystonia, Chorea, Delayed myelination, EEG with focal sharp waves, ... ORPHA:522077
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Impaired pain sensation ORPHA:2926
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Myoclonus, Hypsarrhythmia OMIM:615859
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ... OMIM:618443
Phosphoserine Aminotransferase Deficiency
Hypertonia, Cerebellar vermis hypoplasia, Myoclonus OMIM:610992
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, EEG with multifocal slow activity, Hypertonia, Myoclonus, Abnormal mye... ORPHA:289266
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Polymicrogyria, Decreased circulating IgA level ORPHA:457485
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal ... ORPHA:52430
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Delayed CNS myelination, Involuntary movements, Chorea, Delayed myelination, ... OMIM:615273
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Sialidosis Type 2
Tremor, Kyphosis, Ataxia ORPHA:87876
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, My... ORPHA:411986
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... OMIM:105400
Hereditary Hyperekplexia
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Chediak-Higashi Syndrome
Tremor, Decreased nerve conduction velocity, Ataxia, Gait disturbance OMIM:214500
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Tremor, Optic atrophy, EEG abnormality, Pontocerebellar atrophy, Failure to thrive OMIM:608799
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Gait disturbance, Myoclonus, Abnormality of extrap... OMIM:607822
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Optic atrophy, Dys... OMIM:619708
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... ORPHA:276241
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... ORPHA:391428
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Kyphosis, Gait ataxia, Abdominal obesity, Cerebellar vermis atrophy OMIM:300354
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Neurodevelopmental Disorder With Spasticity And Poor Growth
Delayed CNS myelination, Generalized dystonia, Ataxia, Clonus, Babinski sign, Opisthotonus, Hypsa... OMIM:618076
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Decreased compound muscle action potential amplitude, Facial palsy, Waddling ... OMIM:603511
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy ORPHA:27
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... OMIM:601162
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo... OMIM:616271
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Optic atrophy, Cerebellar hypoplasia, Myoclonus, Failure to thrive,... OMIM:607196
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Spasticity OMIM:614808
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... ORPHA:397596
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... OMIM:615122
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Paresthesia, Myoclonus, Abnormali... ORPHA:79279
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Dystonia ORPHA:139406
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Gait disturbance ORPHA:1875
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Chédiak-Higashi Syndrome
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Tremor, Inability to walk,... ORPHA:167
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Neutral Lipid Storage Disease With Myopathy
Fasciculations, Difficulty walking OMIM:610717
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Decreased amplitu... OMIM:618733
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Fasciculations, Abnormality of extrapyramidal motor function, EEG with continuo... ORPHA:275864
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Exocrine pancreatic ... OMIM:620005
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hype... OMIM:619737
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA... OMIM:212750
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... ORPHA:845
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Optic disc pallor, Abnormal myelination, Small for gestational age, Inability... ORPHA:404454
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Short neck, Tongue fasciculations, Fasciculations, Spasticity, Failure to thrive OMIM:618065
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Optic disc pallor, Poor motor coordination, Parki... ORPHA:79264
Leigh Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Involuntary movements, Chorea, Optic atrophy, Spastic diple... ORPHA:506
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, Abn... ORPHA:1942
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, Spasticity, EEG abnormality OMIM:618718
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Optic atrophy, Small for gestational age, Myoclonus OMIM:619057
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Pyridoxal Phosphate-Responsive Seizures
EEG with burst suppression, Unsteady gait, Hypertonia, Myoclonus, Failure to thrive ORPHA:79096
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensatio... ORPHA:447753
Thyrocerebroretinal Syndrome
Slurred speech, Ataxia, Myoclonus OMIM:274240
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Inability to walk, Paraparesis, Hyperkinetic... ORPHA:2912
Cog8-Cdg
Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus ORPHA:95428
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Steppage gait, Fasc... ORPHA:521411
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616437
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Myoclonus, Poor... ORPHA:86909
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Kypho... ORPHA:466722
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Chiari ... OMIM:618476
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Leukodystrophy, L... OMIM:614299
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait d... ORPHA:90321
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, Oromandibul... ORPHA:412217
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, Delayed CNS myelination, Inability to walk, CNS hypomyelination, Myoclonus OMIM:616158
Glycine Encephalopathy 1
Lethargy, Myoclonus OMIM:605899
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Dystonia, Hypoplasia of the pons, Optic atrophy, Hypsarrhythmia, Cerebel... OMIM:617669
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Hypsarrhythmia, Limb hypertonia OMIM:617162
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Truncal ataxia, Limb ataxia, Paraplegia, Hemiparesis, Po... OMIM:105210
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetria, Dysdiadocho... OMIM:617675
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... OMIM:301078
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Opisthotonus, Choreoathetosis,... OMIM:614969
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, Clonus, Rigidity, EEG with burst suppression, Babinski sign, Optic atrop... OMIM:614498
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Hypothyroidism, Decreased circulating IgA level OMIM:212065
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Torticollis, Facial palsy, Hyperlordosis, Kyphosis, Distal sensory impairment, ... OMIM:181405
Wilson Disease
Dystonia, Poor motor coordination, Tremor, Hypoesthesia, Rigidity, Decreased nerve conduction vel... OMIM:277900
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age OMIM:615368
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Spasticity ORPHA:352490
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Myoclonus, Peripheral dysmyelination OMIM:260565
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,... ORPHA:139396
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, EEG abnormality, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Delayed myelination, Ataxia, Cerebellar hypoplasia, Eyelid myoclonus OMIM:613839
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia OMIM:600795
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Chorea, Delayed myelination, Athetosis, EEG abnormality, Scoliosis, Apraxia, ... OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis OMIM:615834
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Scoliosis, Decreased body weight OMIM:278760
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Optic atrophy, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Scol... OMIM:615851
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Alexander Disease
Ataxia, Clonus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Abnormal pyram... ORPHA:58
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Simplified gyral pattern, Decreased circulating antibody level, ... OMIM:617062
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Dystonia, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, Optic atr... ORPHA:354
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp... ORPHA:240071
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis, Patchy ... ORPHA:90322
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... ORPHA:502423
Scheie Syndrome
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis ORPHA:93474
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Imp... OMIM:300100
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Abnormal form of the vertebral bodies, M... ORPHA:93399
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Scoliosis, Prog... ORPHA:496641
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, C... ORPHA:48818
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Kyphosis, Babinski sign, Retrocerebellar cyst, ... ORPHA:364028
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, EEG with spike-wave complexes, Tremor, EEG with burst suppression, Delayed my... ORPHA:1934
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... OMIM:607155
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Shuffling gait, Myo... ORPHA:171695
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Delayed myelination OMIM:618512
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
EEG with burst suppression, Hypertonia, Myoclonus OMIM:617290
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Eyelid myoclonus OMIM:618357
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis ORPHA:2181
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Paraparesis, Inability to walk, Obesit... ORPHA:2822
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Decreased circulating IgA level OMIM:613327
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, EEG with burst suppression, Hypsarrhythmia, Hypertonia, Hyperkinetic movement... OMIM:619124
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, EEG with focal spike waves, Ataxia, Overweight, Inability to walk, Tremor,... OMIM:619229
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, EEG abnormality, Failure to thrive, Myoclonus OMIM:300673
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Abnormal form of the vertebr... ORPHA:475
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Hypsarrhythmia, Increased cup-to-dis... ORPHA:500144
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, EEG with polyspike wave complexes, Cerebellar vermis... ORPHA:98889
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Friedreich Ataxia 2
Impaired vibratory sensation, Incoordination, Abnormal medulla oblongata morphology, Ataxia, Babi... OMIM:601992
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Delay... ORPHA:572798
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls ORPHA:75840
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly... ORPHA:98863
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Monosomy 18Q
Hypothyroidism, Secondary growth hormone deficiency, Decreased circulating IgA level ORPHA:1600
Myopathy, Centronuclear, 2
Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:255200
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of... ORPHA:2388
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired temperature sensation, CN... OMIM:268800
Wieacker-Wolff Syndrome, Female-Restricted
Delayed CNS myelination, Facial palsy, Short neck, Inability to walk, Kyphosis, Scoliosis, Oculom... OMIM:301041
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Arachnoid Cyst
Back pain, Facial palsy, Paraparesis, Abnormal cerebellum morphology, Inability to walk, Slurred ... ORPHA:2356
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Delayed myelination, Scoliosis, Apra... OMIM:314580
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Cerebellar hypoplasia, Scoliosis ORPHA:238750
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Cerebral dysmyelination, Tremor, Inability to walk, ... ORPHA:72
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Ataxia, Myoclonus, Weight loss OMIM:600072
Winchester Syndrome
Kyphosis OMIM:277950
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus ORPHA:1941
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Gait disturbance, Scoliosis,... ORPHA:220497
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Chorea, Myoclonus, Scoliosis, Slender build OMIM:617600
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment OMIM:604218
Hurler Syndrome
Cerebral palsy, Short neck, Abnormal pyramidal sign, Spinal canal stenosis, Scoliosis, Spastic pa... ORPHA:93473
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Decreased nerve conduction velocity, Failure to thrive, Cerebral dysmyelination OMIM:261515
Full Schwannomatosis
Bilateral vestibular schwannoma, Hypoesthesia, Paresthesia, Fasciculations, Scoliosis ORPHA:93921
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Abnormal peripheral myelination, Abnormality of peripheral nerve conduction ORPHA:168563
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia OMIM:607426
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal cerebellar cortex morpholo... ORPHA:70595
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Short neck, Tr... OMIM:300966
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Optic atrophy, Hypsarrhyth... ORPHA:521426
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertoni... ORPHA:445038
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Vocal cord paralysis, Obesity... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Vocal cord paralysis, Obesity... ORPHA:98853
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Failure to thrive ORPHA:536516
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Gait disturbance, Scoliosis,... ORPHA:220493
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Acute Transverse Myelitis
Impaired vibratory sensation, Back pain, Somatic sensory dysfunction, Orthostatic hypotension, Dy... ORPHA:139417
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Hypsarrhythmia, Myoclonus... OMIM:618321
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Decreased circulating antibody level, Hypothyroidism, Microcytic anemia OMIM:619750
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Small for gestational age, Ataxia, Inability to walk, ... OMIM:617799
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Optic atrophy, Hypertonia, Cerebellar hypopl... ORPHA:3078
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... OMIM:254900
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Spastic tetr... OMIM:619909
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Roifman Syndrome
Decreased circulating antibody level, Decreased T cell activation, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Leukopenia, Increased circulating IgG level, Thrombocytosis, Lym... OMIM:615934
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Cachexia, Short neck, Tremor, Kyphosis, Obesity, EEG abnormality, Scoliosis ORPHA:85293
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Kyphosis, Scoliosis ORPHA:3454
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis, EEG abnormality ORPHA:1858
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Ataxia, Aganglionic megacolon, Short neck, Gait disturbance, M... ORPHA:247262
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Delayed CNS myelination, Short neck, Kyphosis, Failure to thrive OMIM:608776
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Kyphosis, Obesity, Hyperlordosis ORPHA:3085
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Decreased circulating total IgA, T lymphocyt... OMIM:619381
Benign Samaritan Congenital Myopathy
Lethargy, Fasciculations ORPHA:324581
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Opt... OMIM:615574
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Babinski sign, Fasciculations OMIM:619733
D-Glyceric Aciduria
Delayed CNS myelination, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Hypsarrhythmi... OMIM:220120
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Typhoid
Tremor, Lethargy, Hypertonia, Ataxia ORPHA:99745
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple... OMIM:615468
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations, Gait di... ORPHA:682
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor OMIM:610539
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Spastic tetraparesis, Delayed myelination, Optic atrophy, CNS hypomyel... OMIM:614261
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Obesity, Tip-toe gait, Gait d... ORPHA:98855
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Brody Disease
Somatic sensory dysfunction, Fasciculations OMIM:601003
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... OMIM:607459
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Abnormal CNS myelination, Myoclonus, Scoliosis, Failure to t... OMIM:615816
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia... OMIM:620358
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis OMIM:615084
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... ORPHA:93314
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Myoclonus OMIM:560000
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Opisthoton... OMIM:619847
Tick-Borne Encephalitis
Back pain, Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, In... ORPHA:297
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Opisthotonus, Hypsarrhythm... OMIM:620352
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations, Scoliosis ORPHA:1143
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... ORPHA:646
Neuroblastoma, Susceptibility To, 1
Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive OMIM:256700
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... OMIM:620327
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Kyphosis, Scoliosis OMIM:619797
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Delayed CNS myelination, Myoclonus OMIM:619609
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertoni... OMIM:301072
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Facial diplegi... ORPHA:171436
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Kyphosis, Obesity, Scoliosis OMIM:615547
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, EEG with spike-wave complexes, Tr... ORPHA:2203
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
EEG with abnormally slow frequencies, Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, ... OMIM:618493
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... OMIM:605711
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis OMIM:300280
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis OMIM:617186
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity OMIM:616640
Neuraminidase Deficiency
Slurred speech, Myoclonus, Dysmetria OMIM:256550
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia ORPHA:683
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Optic ... OMIM:617281
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build OMIM:254090
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Dystonia, Chorea, Clumsiness, Choreoathetosis, Fal... ORPHA:209905
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis, EEG abnormality ORPHA:2479
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Small for gestational age, Scoliosis OMIM:618484
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Facial palsy, Optic nerve hypoplasia, Kyphosis, Optic atrophy, EEG abnorma... ORPHA:261349
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Mcdonough Syndrome
Kyphosis, Scoliosis, Cachexia ORPHA:2471
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Bradykin... ORPHA:254892
Cockayne Syndrome Type 3
Optic disc pallor, Abnormal myelination, Demyelinating peripheral neuropathy, Kyphosis, Unsteady ... ORPHA:90324
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Developmental And Epileptic Encephalopathy 2
Inability to walk, Hypsarrhythmia, Myoclonus, Scoliosis, EEG with generalized slow activity OMIM:300672
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Schindler Disease, Type I
Spasticity, Optic atrophy, Myoclonus OMIM:609241
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Hypothyroidism, Anemia OMIM:226300
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... OMIM:242900
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormality of the vertebral column, Kyphoscoliosis ORPHA:53721
Thymoma
Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Abnormal lymphocyte ph... ORPHA:99867
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, Hypsa... ORPHA:86309
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Clonus OMIM:620080
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Rheumatic Fever
Hemiballismus, Chorea, Gait disturbance, Fasciculations ORPHA:3099
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Gait distu... ORPHA:1454
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity ORPHA:941
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Mitochondrial Dna Depletion Syndrome 19
Multifocal epileptiform discharges, Spasticity, Myoclonus, Tetraparesis OMIM:618972
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Scoliosis ORPHA:79327
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Poor coordination, Abnormal autonomic nervous system physi... ORPHA:478029
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, Decreased speci... OMIM:614576
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... OMIM:253010
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Intellectual Developmental Disorder, Autosomal Dominant 42
Cerebral palsy, Dystonia, Inability to walk, EEG with burst suppression, EEG with temporal sharp ... OMIM:616973
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Crisponi Syndrome
Kyphosis, Hypertonia, Scoliosis ORPHA:1545
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level ORPHA:169105
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor funct... OMIM:612199
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive ORPHA:476126
Arthrogryposis, Distal, Type 5
Kyphosis, Hypertonia, Scoliosis OMIM:108145
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H... ORPHA:468631
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hypertonia, Myoclonus OMIM:618240
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy ORPHA:352447
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Failure to thrive, Ataxia OMIM:201100
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia ORPHA:25
Myopathy, Myofibrillar, 2
Fasciculations OMIM:608810
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ataxia, Myoclonus, Dystonia OMIM:619167
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Weight loss, Hypsarrhythmia, EEG abnormality, Myoclonus, Lethargy, S... ORPHA:20
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Babinski sign, Abnormal py... OMIM:617527
Developmental And Epileptic Encephalopathy 100
Delayed CNS myelination, Chorea, EEG with photoparoxysmal response, Gait ataxia, Choreoathetosis,... OMIM:619777
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Kyphosis, Unsteady gait, Dystonia, Spasticity, Failure to thrive OMIM:615512
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Abnormal autonomic nervous system physiology, Dys... ORPHA:2828
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesit... OMIM:614947
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Leukodystrophy, Intent... OMIM:619475
Congenital Sialidosis Type 2
Ataxia, Optic atrophy, Dysmetria, Myoclonus, Spasticity ORPHA:93400
Pediatric-Onset Graves Disease
Tremor, Failure to thrive, Hyperkinetic movements ORPHA:525731
Lafora Disease
Ataxia, Inability to walk, Hypsarrhythmia, Gait disturbance, Myoclonus, Erratic myoclonus, Spasti... ORPHA:501
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Tongue fasciculations, Myoclonus, Lethargy OMIM:614922
Early-Onset Lafora Body Disease
Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Coffin-Lowry Syndrome
Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Sco... ORPHA:192
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Cerebellar vermis hypoplasia, Kyphosis, Cerebellar hypoplasia, Scoliosis, Spina bi... OMIM:618291
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity, Dandy... ORPHA:2752
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Unsteady gait, Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonus, Dystonia, Failure ... ORPHA:17
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Hypertonia, Myoclonus, Spasticity, Failure to thrive OMIM:618426
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Short neck ORPHA:178148
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Scoliosis OMIM:617011
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Congenital Myopathy 22A, Classic
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls OMIM:620351
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Kyphosis, Pain insensitivity, Scoliosis OMIM:617061
Sialuria
Neuropathic spinal arthropathy, Hyperkinetic movements ORPHA:3166
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Xerostomia, Primar... ORPHA:227982
Micro Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Kyphosis, Optic atrophy, Scoliosis,... ORPHA:2510
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Primary adrenal insufficiency, Decrea... ORPHA:227990
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Pycnodysostosis
Cerebral dysmyelination, Hyperlordosis, Overweight, Kyphosis, Chiari malformation, Spondylolysis,... ORPHA:763
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Cerebellar gliosis, Delayed myelination, Abnormal pyramidal sign, CNS hypomyelina... ORPHA:3008
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... OMIM:233600
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Melas
Abnormal central motor function, Ataxia, Optic atrophy, Hemiparesis, EEG abnormality, Gait distur... ORPHA:550
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Failure to thrive OMIM:169400
Emanuel Syndrome
Sacral dimple, Torticollis, Kyphosis, Scoliosis, Failure to thrive, Dandy-Walker malformation OMIM:609029
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, EEG abnormality, Myoclonus OMIM:614946
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... ORPHA:349
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Trisomy 20P
Incoordination, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:261318
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
EEG abnormality, Spasticity, Myoclonus OMIM:246450
Vici Syndrome
Gray matter heterotopia, Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Lymphopenia, Hypothyroidism OMIM:158350
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... ORPHA:582
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis, Failure to... OMIM:203700
15Q24 Microdeletion Syndrome
Small for gestational age, Kyphosis, Obesity, Scoliosis, Failure to thrive ORPHA:94065
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination, Spasticity, Myoclonus OMIM:612949
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Obesity, Scoliosis, Short neck ORPHA:3191
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation test, Abs... OMIM:307200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, EEG abnormality, Delayed myelination, Myoclonus ORPHA:314655
Parkinson Disease 21
Bradykinesia, Tremor, Rigidity, Parkinsonism OMIM:616361
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... OMIM:615688
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Fountain Syndrome
Kyphosis, Abnormal form of the vertebral bodies, EEG abnormality, Scoliosis, Spina bifida occulta ORPHA:3219
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity, CNS hypomyelination ORPHA:309155
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait ataxia, Cerebella... ORPHA:457359
Nmda Receptor Encephalitis
Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... ORPHA:217253
Whipple Disease
Ataxia, Abnormal pyramidal sign, Cachexia, Myoclonus ORPHA:3452
Arthrogryposis, Distal, Type 4
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis OMIM:609128
Trisomy 13
Kyphosis, Chiari malformation, Optic atrophy, Scoliosis ORPHA:3378
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Camurati-Engelmann Disease
Waddling gait, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Optic atrophy, Abnormalit... ORPHA:1328
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Delayed CNS myelination, Impaired pain sensation, Kyphosis, EEG abnormality, Scoliosis, Decreased... OMIM:619005
19P13.12 Microdeletion Syndrome
Short neck, Aplasia/Hypoplasia of the cerebellar vermis, Kyphosis, Obesity, Scoliosis ORPHA:254346
3C Syndrome
Short neck, Kyphosis, Hemivertebrae, Optic atrophy, Scoliosis, Aplasia/Hypoplasia of the cerebell... ORPHA:7
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Myoclonus, Leukodystrophy OMIM:614462
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Cerebellar hypoplasia, Scoliosis, Slend... OMIM:300967
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Myoclonus, Dystonia OMIM:620167
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Clonus, Spastic tetraplegia, Myoclonus, Scoliosis, Failure to thrive OMIM:619055
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Marden-Walker Syndrome
Short neck, Kyphosis, Cerebellar hypoplasia, Scoliosis, Inferior cerebellar vermis hypoplasia, Da... OMIM:248700
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Irregularity of vertebral bodies, Papilledema, Optic atrophy ORPHA:580
Weaver Syndrome
Delayed CNS myelination, Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Cere... OMIM:277590
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Urban-Rogers-Meyer Syndrome
Kyphosis, Obesity, Short neck ORPHA:3409
Developmental And Epileptic Encephalopathy 101
Myoclonus, Opisthotonus OMIM:619814
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beaking of vertebral b... OMIM:230500
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Gait disturbance, Scoliosis, Failure to thrive ORPHA:500055
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive ORPHA:420794
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Vertebral compression fracture, Sandwich appearance of vertebral bodies, Tetraparesis OMIM:602080
Serotonin Syndrome
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Abnormality of the autonomic nervous system ORPHA:43116
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... OMIM:242840
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Kyphoscoliosis, Inability to walk, Kyphosis, Unsteady gait, EEG abnormalit... ORPHA:3063
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon, Obesity ORPHA:261222
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia OMIM:617190
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:280
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Whim Syndrome
Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia, Lymphopenia, P... ORPHA:51636
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus ORPHA:466677
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Somatic sensory dysfunction, Orthostatic hypotension due to autonomic dysfunc... ORPHA:642
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Chiari malformation, ... ORPHA:2789
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Generalized dystonia, Scoliosis ORPHA:79107
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Primary Sjögren Syndrome
Normocytic anemia, Parotitis, Xerostomia, Thyroiditis, Decreased circulating antibody level, Comp... ORPHA:289390
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Leukope... ORPHA:2298
Igg4-Related Pachymeningitis
Low back pain, Somatic sensory dysfunction, Paraparesis, Abnormality of cervical plexus, Abnormal... ORPHA:449427
Viss Syndrome
Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG level, Hypothyroidi... OMIM:619472
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Lathosterolosis
Abnormal thoracic spine morphology, Chiari malformation, Myoclonus, Failure to thrive, Cerebellar... ORPHA:46059
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Fabry Disease
Abnormal autonomic nervous system physiology, Paresthesia, Fasciculations OMIM:301500
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Cachexia, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Ab... ORPHA:800
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Farber Disease
Paraparesis, Spasticity, Failure to thrive, Myoclonus ORPHA:333
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Tetraparesis, Spasticity, Vertebral hyperostosis OMIM:164200
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroiditis, Incre... ORPHA:79078
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, Le... ORPHA:398069
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H... OMIM:618278
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Paresthesia, Scoliosis ORPHA:285
9P13 Microdeletion Syndrome
Myoclonus, Scoliosis, Hand tremor ORPHA:324313
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Spondyloenchondrodysplasia
Kyphosis, Chorea, Platyspondyly, Spasticity ORPHA:1855
Prader-Willi Syndrome
Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Poor gross motor coordination, O... OMIM:176270
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Marshall-Smith Syndrome
Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the odontoid process, K... OMIM:602535
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Kyphosis, Difficulty walking, Scoliosis, Spasticity ORPHA:464738
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Obesity, Myoclonus ORPHA:251004
Cowden Syndrome
Ataxia, Abnormal cerebellum morphology, Kyphosis, Scoliosis, Failure to thrive ORPHA:201
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Atelis Syndrome 2
Kyphosis, Sacral dimple, Dysmetria OMIM:620185
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Broad-based gait, Small for gestational age, Ataxia, Failure to thrive in infancy,... ORPHA:268261
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Scoliosis OMIM:616449
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:2115
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Chiari type I malformation, Scoliosis, Biconcave vertebra... OMIM:130720
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Failure to thrive, Dandy-Walker mal... ORPHA:401973
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Failure to thrive, Scoliosis, Tip-toe gait OMIM:618050
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Para... ORPHA:573278
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Small for gestational age, Ataxia, Dystonia, Tremor, Dysmetria, Tru... OMIM:220111
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Optic atrophy,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Optic atrophy,... ORPHA:363958
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Kinsship Syndrome
Sacral dimple, Spastic tetraparesis, Short neck, Myoclonus, Scoliosis, Failure to thrive, Dandy-W... OMIM:619297
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:253220
Mucopolysaccharidosis Type 6
Kyphosis, Failure to thrive, Ovoid vertebral bodies, Short neck ORPHA:583
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Facial palsy, Scoliosis OMIM:617143
Ethylene Glycol Poisoning
Facial palsy, Slurred speech, Ataxia, Myoclonus ORPHA:31826
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Small for gestational age, Kyphosis, Gait disturbance, Scoliosis, Failure to t... ORPHA:464311
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Distal Triplication 15Q
Kyphosis, Scoliosis, Dandy-Walker malformation, Large for gestational age ORPHA:314588
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Scoliosis, Failure to thriv... OMIM:610443
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Anemia, Leukopenia, De... ORPHA:470
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypothyroidism, Hypoplasia of the thymus, Thrombocy... ORPHA:84064
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Abnormal CNS myelination, Biconcave ver... OMIM:607014
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... ORPHA:505248
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Small for gestational age, Kyphosis, Gait disturbance, Scoliosis, Failure to t... ORPHA:464306
Osteogenesis Imperfecta
Somatic sensory dysfunction, Small for gestational age, Ataxia, Cervical kyphosis, Kyphosis, Vert... ORPHA:666
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Spasticity OMIM:301040
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Listeriosis
Back pain, Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus ORPHA:533
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio... OMIM:265000
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Optic atrophy, Obesity, Scoliosis ORPHA:193
Postinfectious Vasculitis
Increased circulating IgA level, Orchitis, Abnormality of humoral immunity, Increased circulating... ORPHA:48435
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Decreased circulating antibody level OMIM:618183
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level OMIM:222470
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:617602
Rift Valley Fever
Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Myoclonic Epilepsy Of Lafora
Gait disturbance, Myoclonus, Apraxia OMIM:254780
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Trichothiodystrophy
Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Hennekam Syndrome
Pachygyria, Splenomegaly, Lymphopenia, Decreased circulating antibody level ORPHA:2136
Alstrom Syndrome
Truncal obesity, Kyphosis, Scoliosis OMIM:203800
Monosomy 9Q22.3
Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral column, Chiari malf... ORPHA:77301
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Microphthalmia, Lenz Type
Kyphosis, Optic disc coloboma, Scoliosis, Hyperlordosis ORPHA:568
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Anemia, Neutropenia ORPHA:175
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis ORPHA:536532
Mend Syndrome
Sacral dimple, Kyphosis, Hypertonia, Failure to thrive, Dandy-Walker malformation OMIM:300960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Optic atrophy, EEG abnormality, Myoclonus, Cerebellar hypoplasia, Spasticit... OMIM:253280
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis ORPHA:2215
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Kyphosis OMIM:219080
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Scoliosis OMIM:619951
Zttk Syndrome
Kyphosis, Hemivertebrae, Optic atrophy, Cerebellar hypoplasia, Scoliosis, Spasticity, Failure to ... OMIM:617140
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Kyphosis OMIM:610475
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
16Q24.3 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Scoliosis ORPHA:261250
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia OMIM:271510
Marden-Walker Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Cerebellar hypoplasia, Scoliosis, Failure to thr... ORPHA:2461
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level ORPHA:99843
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Delayed CNS myelination, Short neck, Kyphosis, Hypertonia, Scoliosis OMIM:619194
Hurler-Scheie Syndrome
Kyphosis, Scoliosis OMIM:607015
Mucopolysaccharidosis, Type Ii
Kyphosis, Papilledema, Short neck OMIM:309900
1P36 Deletion Syndrome
Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Spinal canal stenosis, Obesity, EEG abnormality,... ORPHA:1606
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en... OMIM:143095
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis OMIM:162300
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Chiari malformation, Scoliosis, Biconcave... ORPHA:955
2Q31.1 Microdeletion Syndrome
Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis ORPHA:251014
Williams Syndrome
Sacral dimple, Failure to thrive in infancy, Ataxia, Involuntary movements, Hyperlordosis, Tremor... ORPHA:904
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Exaggerated startle response, Involuntary movements, Inabili... ORPHA:438213
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, Hypertonia, Myoclonus, Fas... ORPHA:284339
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Short neck, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies... ORPHA:818
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive OMIM:239000
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Cerebellar vermis hypoplasia OMIM:619123
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Neutral Lipid Storage Myopathy
Obesity, Difficulty walking, Fasciculations ORPHA:98908
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Classic Homocystinuria
Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis ORPHA:394
Mucolipidosis Type Ii
Inability to walk, Kyphosis, Weight loss ORPHA:576
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Kyphosis OMIM:610489
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Oculocerebrorenal Syndrome Of Lowe
Clonus, Kyphosis, EEG abnormality, Platyspondyly, Scoliosis, Failure to thrive ORPHA:534
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... ORPHA:3042
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level, Anemia, Hepatosplenomegaly ORPHA:247598
Neurofibromatosis Type 1
Kyphosis, Ataxia, Paresthesia, Scoliosis ORPHA:636
Coffin-Siris Syndrome 1
Sacral dimple, Delayed CNS myelination, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta, D... OMIM:135900
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Doors Syndrome
Small cerebellar cortex, Hemivertebrae, Optic atrophy, EEG abnormality, Lumbar scoliosis, Myoclon... ORPHA:79500
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Cachexia ORPHA:1969
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Stickler Syndrome
Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral... ORPHA:828
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Scoliosis, Short neck OMIM:618223
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Scoliosis OMIM:619482
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1507
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Abnormal form of the verteb... OMIM:194190
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Acromegaly
Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis ORPHA:314769
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Ramon Syndrome
Kyphosis, Optic disc pallor, Scoliosis, Decreased body weight OMIM:266270
Cdags Syndrome
Kyphosis OMIM:603116
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Cerebellar h... ORPHA:2273
Aspartylglucosaminuria
Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spond... OMIM:208400
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Marfan Syndrome
Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis ORPHA:558
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Sponastrime Dysplasia
Decreased circulating antibody level, Hypothyroidism, Neutropenia ORPHA:93357
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2911
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Facial palsy, Scoliosis ORPHA:2658
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Orthostatic hypotension OMIM:304150
Primrose Syndrome
Ataxia, Kyphosis, Truncal obesity, Irregular vertebral endplates, Posterior scalloping of vertebr... OMIM:259050
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Sotos Syndrome
Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Aganglionic megacolon, Tremor, Kyphosis, P... ORPHA:821
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Coffin-Lowry Syndrome
Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight OMIM:303600
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99228
Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:881
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Polymicrogyria, Simplified gyral pattern, Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Failure to thrive, Scoliosis OMIM:309000
17Q11 Microdeletion Syndrome
Abnormal central motor function, Kyphosis, Abnormality of the vertebral column, Beaking of verteb... ORPHA:97685
Crimean-Congo Hemorrhagic Fever
Fasciculations ORPHA:99827
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Proteus Syndrome
Kyphosis, Scoliosis, Cachexia, Abnormal form of the vertebral bodies ORPHA:744
Wrinkly Skin Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:278250
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Facial palsy, Hyperlordosis, Short neck, Kyphosis OMIM:113620
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Periventricular heterotopia, Polymicrogyria, Decreased circulating antibody level ORPHA:261537
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Small for gestational age, Failure to thrive in infancy, Anterior c... OMIM:216340
Mowat-Wilson Syndrome
Asplenia, Periventricular heterotopia, Polymicrogyria, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Periventricular heterotopia, Polymicrogyria, Decreased circulating antibody level ORPHA:261552
Alström Syndrome
Optic disc pallor, Somatic sensory dysfunction, Thoracic scoliosis, Ataxia, Incoordination, Kypho... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ccr10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ccr10.

No publications found that use IMPC mice or data for Ccr10.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ccr10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ccr10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ccr10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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