Gene Summary

Name:
calcium channel, voltage-dependent, beta 4 subunit
Synonyms:
Cchb4,  3110038O15Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Cacnb4tm1a(EUCOMM)Hmgu HET Early adult 7.57×10-09

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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 Cacnb4 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.

The table below shows human diseases associated to Cacnb4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... OMIM:607682
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307

The table below shows human diseases predicted to be associated to Cacnb4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 2
Seizure, Attention deficit hyperactivity disorder OMIM:607417
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Gait disturba... OMIM:611228
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Seizure, EEG abnormality, Myoc... OMIM:617829
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Seizure, Confusion, Lethargy, EEG abnormality OMIM:617900
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Falls OMIM:614228
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Motor conduction block, Abnormal nerve conduction velocity, Difficulty ... ORPHA:2932
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Difficulty walking, Focal-onset seizure, Bilateral tonic-cloni... OMIM:613608
Early Myoclonic Encephalopathy
Lethargy, Hypsarrhythmia, Focal tonic seizure, EEG abnormality, Myoclonus, Focal motor seizure, F... ORPHA:1935
Megalencephaly With Dysmyelination
Seizure, EEG with photoparoxysmal response, Ataxia, Spasticity OMIM:249240
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Reduced consciousness/confusion, Bilateral tonic-clonic seizure, C... ORPHA:139426
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Confusion, Lethargy, EEG abnormality OMIM:613002
Spastic Ataxia With Congenital Miosis
Seizure, Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Diarrhea, Failur... OMIM:618495
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Seizure, Status epilepticus, EEG abnormality, Attention deficit hypera... OMIM:617665
Benign Paroxysmal Torticollis Of Infancy
Drowsiness, Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Immunodeficiency 48
Panhypogammaglobulinemia, Hepatomegaly, Diarrhea, Failure to thrive, Splenomegaly OMIM:269840
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Excessive daytime somnolence, Ataxia ORPHA:101075
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory evoked pot... OMIM:601068
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Paroxysmal Nonkinesigenic Dyskinesia 2
Seizure, Paroxysmal dystonia OMIM:611147
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude, Difficulty walking OMIM:619112
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Difficulty walking, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... OMIM:618912
Primary Dystonia, Dyt13 Type
Dystonia, Torsion dystonia, Craniofacial dystonia, Torticollis, Jerky head movements, Generalized... ORPHA:98807
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Seizure, Confusion, EEG abnormality, Myoclonus, Paroxysmal... OMIM:606777
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Ataxia, Decreased nerve conducti... ORPHA:280234
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Motor axonal neuropathy, Bilateral tonic-clonic seizure, Sensory axo... ORPHA:457205
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, St... OMIM:610100
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... DECIPHER:29
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Ataxia, Decreased nerve conduction velocity OMIM:183050
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Seizure, EEG abnormality, Ataxia, Spasticity OMIM:619228
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk ORPHA:431329
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Seizure, Gait disturbance, Lethargy ORPHA:79283
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex, Myoclonus, Jerk-locked prem... OMIM:615127
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls OMIM:616921
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Diarrhea, S... OMIM:608971
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Tortico... OMIM:618425
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Focal hemiclonic seizure, Interictal epilep... ORPHA:725
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:614417
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... ORPHA:2590
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Mantle Cell Lymphoma
Weight loss, Anorexia, Lymphadenopathy, Splenomegaly ORPHA:52416
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Steppage gait, Decreased nerve conduction velocity ORPHA:352675
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Episodic Kinesigenic Dyskinesia 1
Seizure, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Hypsarrhythmia, Seizure, EEG abnormality OMIM:617105
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lack of T cell f... ORPHA:277
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Gait disturbance, Abnormal motor evoked potentials, Peripheral axonal neuropat... ORPHA:99939
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Spastic diplegia, Seizure, Status epilepticus, Stereotypy, Opt... OMIM:617830
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Squamous Cell Carcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Lymphadenopathy ORPHA:99977
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Focal-onset seizure, Chorea, Poor coordination, Paroxysmal dyskinesia, Ataxia, Seizure,... OMIM:619150
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Decreased motor nerve conduction velocity OMIM:615575
Intellectual Developmental Disorder, X-Linked 72
Seizure, Stereotypy, Hyperactivity OMIM:300271
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus OMIM:612736
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Epilepsy, Progressive Myoclonic, 11
Ataxia, Seizure, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Rigidity OMIM:618876
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Hyperprolinemia, Type I
Ataxia, Seizure, Status epilepticus, EEG abnormality, Stereotypy, Hyperactivity OMIM:239500
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Chorea... OMIM:619317
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Excessive daytime somnolence, Ataxia, Optic... ORPHA:99014
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Optic atrophy, Optic disc p... ORPHA:98890
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Seizure, Gait ataxia, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Decreased number of peripheral myelinated... OMIM:180800
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Gait disturbance, Onion bulb formation, Abnormal auditory evoked potentials, Decreas... OMIM:601455
Febrile Infection-Related Epilepsy Syndrome
Focal-onset seizure, Lethargy, EEG abnormality ORPHA:163703
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy, Peripheral axonal neuropathy OMIM:613710
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal motor nerve conduction velocity, Seizure, Dysmetria, Decreased nerve conductio... OMIM:618404
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Immunodeficiency 19
Lymphopenia, Diarrhea, Failure to thrive OMIM:615617
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation, Recurr... OMIM:615615
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes,... OMIM:254800
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, EEG abnormality, Myoclonus, Ataxia OMIM:600143
Autism, Susceptibility To, X-Linked 3
Seizure, EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Seizure, EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, X-Linked 1
Seizure, EEG abnormality, Stereotypy OMIM:300425
Autism
Seizure, EEG abnormality, Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Seizure, EEG abnormality, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Stereotypy OMIM:608636
Charcot-Marie-Tooth Disease Type 1A
Gait disturbance, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:101081
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... OMIM:611637
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, EEG with spike-wave complexes, Atonic seizure, Absence seizu... OMIM:618587
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Periphe... OMIM:614436
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Gait dist... OMIM:603472
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1368
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Seizure, Myoclonus, Choreoathetosis, Spasticity OMIM:616981
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Seizure, Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction, Gait disturbance, Difficulty walking ORPHA:101001
Mitochondrial Complex I Deficiency, Nuclear Type 3
Seizure, Dystonia, Lethargy, Ataxia OMIM:618224
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, Visua... OMIM:615369
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral demyelin... OMIM:614895
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Focal-onset seizure, Chorea, EEG abno... OMIM:618760
Hereditary Motor And Sensory Neuropathy V
Difficulty walking, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity OMIM:302802
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Attention deficit hyperactivity disorder, Stereotypy, Ataxia OMIM:618709
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Decreased nerve conduction velocit... ORPHA:90103
N-Acetylaspartate Deficiency
Seizure, Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Decreased nerve conduction velocity OMIM:615284
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... ORPHA:247604
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked pote... OMIM:608105
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Progressive gait ataxia, Chronic axonal neuropathy, Sensory axonal neuropathy, ... ORPHA:209004
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Weight loss, Anorexia, Histiocytos... OMIM:209950
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia, Seizure, Myoclonus, Involuntary movements OMIM:611092
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Tremor, Stereotypy, Ataxia OMIM:617862
Homocystinuria Without Methylmalonic Aciduria
Seizure, Lethargy, Ataxia ORPHA:622
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Seizure, EEG abnormality, Optic atrophy, Generalized myoclonic seizure OMIM:614706
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Abnormal autonomic nervous system ph... ORPHA:101046
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... OMIM:619157
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Seizure, Myoclonus, Choreoathetosis, Spasticity OMIM:617065
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Hypsarrhythmia, Hyperkinetic movements, Status epilepticus, Spastic ... OMIM:618285
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG with focal epileptifo... ORPHA:88616
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, S... ORPHA:100024
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Choreoathetosis OMIM:125370
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Seizure, Oculogyric crisis, EEG abno... OMIM:614254
Sagliker Syndrome
Depression, Waddling gait, Anxiety, Short stature, Elevated circulating parathyroid hormone level ORPHA:300493
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia OMIM:618683
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Parkinsonism, Myoclonus OMIM:162350
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Seizure, Progressive cerebellar ataxia, Dysmetria, ... OMIM:603516
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Neutropenia, Failure to thrive OMIM:613501
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Chorea, Slurred speech, Poor fine mo... ORPHA:157941
Methylmalonic Acidemia With Homocystinuria
Seizure, Gait disturbance, Lethargy ORPHA:26
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure w... OMIM:611726
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Diarrhea,... OMIM:602450
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Stereotypy, Generalized myoclonic seizure OMIM:616341
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Seizure, Myoclonus, Choreoathetosis OMIM:618497
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Ataxia OMIM:204500
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Autosomal Dominant Spastic Ataxia Type 1
Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Spastic gait, Jerky head movements ORPHA:251282
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Ataxia, Status epilepticus, Seizure, Confusion, EEG abnormality, Myoclonus ORPHA:71277
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, ... OMIM:602433
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbanc... ORPHA:101077
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Seizure, Myoclonus, Ataxia, Abnormality of extrapyramidal motor function OMIM:204300
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1188
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Difficulty walking, Progressiv... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Abnormal sensory nerve conduction velocity ORPHA:276435
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Ataxia, Seizure, Myoclonus, Dysmetria, Decreased nerve conduction velocity OMIM:618356
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Difficulty walking, Gait disturbance, Toe walking, Peripheral axonal neuropathy, Decreased nerve ... ORPHA:435387
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Normal interictal EEG... ORPHA:306
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Sp... OMIM:205100
Infantile Spasms Syndrome
Infantile spasms, Myoclonus, Hypsarrhythmia ORPHA:3451
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Chronic diarrhea, Colitis, B lymphocytopenia, Splenomegaly, Lymph... OMIM:619164
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Episodic Ataxia, Type 5
Episodic ataxia OMIM:613855
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Seizure, Tongue fasciculations, ... OMIM:159950
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Seizure, Status epilepticus, Tetraplegia, Ch... OMIM:614820
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Bilateral tonic-clonic seizure,... OMIM:607876
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia... OMIM:104290
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Abnormal nervous system electrophysiology, Myocl... OMIM:256731
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Dy... OMIM:618917
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Glycine Encephalopathy
Seizure, Lethargy, Myoclonus, Hyperactivity OMIM:605899
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Nausea and vomiting, Abdominal pain, Abnormality of the peritoneum, Weight loss... ORPHA:83469
Severe Canavan Disease
Inability to walk, Lethargy, Bilateral tonic-clonic seizure, Seizure, Optic atrophy ORPHA:314911
Wolman Disease
Bone-marrow foam cells, Malnutrition, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Cachexia,... ORPHA:75233
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Decreased motor nerve conduction velocity OMIM:118300
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy, Lymphadenopathy, O... ORPHA:99976
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, EEG abnormality, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Focal myoclonic seizure, Bilateral tonic-clonic seizu... ORPHA:98818
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Hyperactivit... OMIM:615924
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign OMIM:615362
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Bradykinesia... OMIM:617836
Craniopharyngioma
Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gland, Growth d... ORPHA:54595
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Seizure, Babinski sign, Optic atrophy, Spasticity OMIM:614322
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Decreased nerve conduction velocity ORPHA:2928
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Weight loss, Lymphadenopathy, Obesity ORPHA:70482
Hemimegalencephaly
Interictal EEG abnormality, Hemihypsarrhythmia, Atonic seizure, EEG with burst suppression, Hemip... ORPHA:99802
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:263516
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Involunta... ORPHA:98810
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilep... OMIM:618924
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia, Hepatomegaly, Hyperhidrosis, Splenomegaly, Lymphadenopathy ORPHA:86893
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Apraxia, Ataxia ORPHA:85338
Ataxia-Pancytopenia Syndrome
Dysmetria, Unsteady gait, Ataxia, Decreased nerve conduction velocity OMIM:159550
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea... ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Postnatal growth retardation, Ataxia, Short stature, Hypogonadism OMIM:616113
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Epilepsy, Progressive Myoclonic, 9
Seizure, Status epilepticus, Myoclonus, Gait ataxia OMIM:616540
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Diarrhea, Anemia, Splenomegaly, Failure to thrive, He... OMIM:618963
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Seizure, Opisthotonus, Opti... ORPHA:216866
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, EEG abnormality, Myoclonus, Hand tremor, Generalized-onset seizure ORPHA:86814
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, EEG with s... ORPHA:36387
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gait disturbance, Seizure, Abnormal upper motor neuron morphology, EEG abnormality, Myoc... OMIM:221770
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circ... OMIM:614699
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Lethargy, Myoclonus, Ataxia OMIM:618225
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Chorea, Hyperto... ORPHA:13
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Gait ataxia, Difficulty walking, Limb ataxia, Unsteady... ORPHA:3115
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Gait disturbance, Abnormal ... ORPHA:139578
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Seizure, Generali... ORPHA:98811
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Torticollis, Lingual dystonia, Myoclonus, L... OMIM:602629
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Focal-onset seizure, Chorea, Gait disturba... ORPHA:225147
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized n... OMIM:271980
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Abnormal motor nerve conduction velocity ORPHA:100998
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereotypy, Involun... OMIM:618218
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Seizure, Facial palsy, Lethargy OMIM:201470
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Difficulty walking, Stereotypy, Spasticity OMIM:617393
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
N-Acetylglutamate Synthase Deficiency
Seizure, Coma, Confusion, Lethargy OMIM:237310
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Dystonia, Gait disturbance,... ORPHA:3095
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, EEG with focal sha... ORPHA:163721
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Gaba-Transaminase Deficiency
Seizure, Lethargy OMIM:613163
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Vocal cord paralysis, Abnormal lower motor neuron morphology OMIM:607641
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... ORPHA:99950
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Dravet Syndrome
Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemiclonic seizure, Interic... ORPHA:33069
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Abdominal pain, Decreased proportion of CD... ORPHA:543
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hemi... ORPHA:352596
Developmental And Epileptic Encephalopathy 1
Dystonia, Hypsarrhythmia, Erratic myoclonus, Focal-onset seizure, Hypertonia, Abnormal pyramidal ... OMIM:308350
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Hypsarrhythmia, EEG with focal epileptiform discharges, Focal-onset s... ORPHA:98820
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Wolfram-Like Syndrome
Male hypogonadism, Depression, Hypothyroidism, Progressive cerebellar ataxia, Delayed puberty, An... ORPHA:411590
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seiz... ORPHA:330050
Lethal Infantile Mitochondrial Myopathy
Seizure, Lethargy ORPHA:254857
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... OMIM:607682
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... OMIM:606353
Alpha-Heavy Chain Disease
Abdominal pain, Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Premature ovarian insuf... ORPHA:100025
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Short Chain Acyl-Coa Dehydrogenase Deficiency
Seizure, Dystonia, Optic atrophy, Lethargy ORPHA:26792
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Decreased motor nerve conduction velocity, Loss of ability to walk, Seizure, O... OMIM:610532
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malnutrition, Abdominal pain, Constipation, Weight loss, Abdominal distention, Cac... OMIM:613662
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Decreased motor nerve conduction velocity, Facial palsy OMIM:607684
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Myoclonic seizure, Hyperactivity, Spasticity, Cortical myoclonus, EEG with spike-... ORPHA:168491
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Decreased nerve conduction velocity OMIM:614932
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Bilateral to... ORPHA:100988
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Anorexia, Pancytopeni... ORPHA:824
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:178469
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, B... OMIM:602099
Combined Saposin Deficiency
Generalized clonic seizure, Hyperkinetic movements, Myoclonus, Babinski sign, Fasciculations, Opt... OMIM:611721
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Focal-onset seizure, Hypertonia, Ataxia, Bilater... OMIM:619092
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnormal lower ... ORPHA:275872
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Abnormal hea... ORPHA:247815
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
Hodgkin Lymphoma
Weight loss, Anorexia, Hepatomegaly, Hyperhidrosis, Splenomegaly, Lymphadenopathy ORPHA:98293
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Intellectual Developmental Disorder, X-Linked 63
Microcephaly, Anxiety OMIM:300387
T-Cell Receptor-Alpha/Beta Deficiency
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Failure to thrive, Lymphadenopathy OMIM:618048
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Abnormal nerve conduction velocity, Gait disturbance, Bradykinesia,... ORPHA:98755
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Multifocal epileptiform discharges, Myoclonus... OMIM:609056
Late-Infantile/Juvenile Krabbe Disease
Febrile seizure (within the age range of 3 months to 6 years), Prolonged brainstem auditory evoke... ORPHA:206443
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Aggressive behavior, Unilateral cryptorchidism OMIM:618286
Developmental And Epileptic Encephalopathy 34
Inability to walk, Focal-onset seizure, Focal hemiclonic seizure, Seizure, Status epilepticus, Bi... OMIM:616645
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbance, Toe walking, Dec... OMIM:302800
Lujo Hemorrhagic Fever
Seizure, Coma, Lethargy ORPHA:319213
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Babinski sign OMIM:619065
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Interictal EEG abnormality, Chorea, Poor fine motor coordination, A... ORPHA:79263
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic se... ORPHA:79137
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Enlarged pituitary gland... ORPHA:91350
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Lower limb spasticity, Imp... OMIM:619028
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Abdominal pain, Leukocytosis, Chronic diarrhea, Failure to thriv... OMIM:617099
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Abdominal pain, Weight loss, Liver abscess, Abnormality of the pancre... ORPHA:54251
Immunodeficiency 55
Diarrhea, Neutropenia, Lymphadenopathy OMIM:617827
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Lethargy OMIM:618228
Cednik Syndrome
Seizure, Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia ORPHA:66631
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Paucity ... OMIM:611890
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Ataxia, Hyperactivity, Abnormal head movements, Athetosis ORPHA:382
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Ataxia, Bilateral tonic-clonic seizure, My... ORPHA:726
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Seizure precipitated by febrile infection, Interictal EEG abnormal... ORPHA:363558
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Diarrhea, ... OMIM:150550
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Anorexia, Panc... ORPHA:507
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Lethargy, Confusion, Decreased nerve conduction velocity, Generalized myoclonic seizure OMIM:238970
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:248111
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Galactose Epimerase Deficiency
Feeding difficulties, Weight loss, Hepatomegaly, Jaundice, Splenomegaly, Nausea and vomiting ORPHA:79238
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Seizure, Sensory axonal neuropathy, ... OMIM:608804
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Interictal epileptiform activity, Bilateral tonic-clon... ORPHA:1929
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Seizure, Clonic seizure, Spastic tetraplegia, Stereotypy OMIM:615282
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:609446
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, Focal-onset seizure, Gait disturbance, Blepharospasm, Bilateral tonic... ORPHA:352582
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia, Seizure, Myoclonus, Optic atrophy OMIM:614299
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) OMIM:618412
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Paresthesia, Orthostatic hypotension, Gait disturbance, Tetraparesis, Abnorma... OMIM:263570
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Abnormality of the peritoneum,... ORPHA:26790
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Focal-onset seizure, Hyperkinetic movements, Bil... ORPHA:561854
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Torticollis, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Dihydrolipoamide Dehydrogenase Deficiency
Seizure, Dystonia, Lethargy, Ataxia OMIM:246900
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Chro... OMIM:618394
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Ataxia, Jerky head movements OMIM:245348
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:208447
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bilateral tonic-clonic seizure, Bradykinesia, Parkinson... OMIM:300423
Coproporphyria, Hereditary
Abdominal pain, Constipation, Hepatomegaly, Jaundice, Diarrhea, Splenomegaly, Vomiting OMIM:121300
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Secretory Component Deficiency
Secretory IgA deficiency, Intermittent diarrhea OMIM:269650
Boutonneuse Fever
Increased circulating IgM level, Abdominal pain, Nausea, Lymphadenopathy, Thrombocytopenia, Incre... ORPHA:83313
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, EE... ORPHA:268947
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Emotional lability, Ataxia, Neoplasm of the p... ORPHA:2495
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Seizure, Unsteady gait, Optic atrophy OMIM:603896
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia, Seizure, Optic atrophy OMIM:618226
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... OMIM:270550
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Spastic diplegia, Spinal cord lesion, Ataxia, Unsteady gait, Myoclonus, Babinski sign... ORPHA:401866
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Dysmetria, Optic atrophy, Ataxia, Decreased nerve conduction velocity OMIM:612674
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Seizure, Ataxia, Decreased nerve conduction velocity ORPHA:1933
Metachromatic Leukodystrophy
Dystonia, Decreased nerve conduction velocity, Gait disturbance, Ataxia, Seizure, Peripheral demy... OMIM:250100
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Seizure, Unsteady gait, Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
Unilateral Hemispheric Polymicrogyria
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:101071
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Gait disturbance, Seizure, Generalized non-motor (absence) seizure, EEG abnormali... OMIM:618141
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Seizure, EEG abnormality, Myoclonus, Optic atrophy, Spasticity OMIM:256730
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spasticity, Oculomotor apraxia, Ataxia, Bilate... ORPHA:313772
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Spasticity, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure, ... OMIM:300912
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili...