Gene: Cacnb4 MGI:103301

Gene Summary

Name:

calcium channel, voltage-dependent, beta 4 subunit

Synonyms:

Cchb4, 3110038O15Rik

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased startle reflex		Cacnb4^{tm1a(EUCOMM)Hmgu}	HET		Early adult	7.57×10^-09

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Human diseases associated with Cacnb4 (4 diseases)
Human diseases predicted to be associated with Cacnb4 (2161 diseases)

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

Disease	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	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...

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us