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Gene: Cacnb4 MGI:103301

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Gene Summary

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

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 Cacnb4tm1a(EUCOMM)Hmgu HET Early adult 7.57×10-09

Download data as:  TSV  XLS

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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.

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
Ataxia, Truncal ataxia ORPHA:211067
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... OMIM:613855
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, EEG with polyspike wave complexes, Febrile seizure (... ORPHA:307

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... ORPHA:95434
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Developmental And Epileptic Encephalopathy 92
Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Seizure, Lethargy OMIM:617829
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Ataxia, Spasticity, Seizure OMIM:249240
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizu... ORPHA:139426
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... OMIM:601098
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:619964
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Difficulty walking, Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sen... OMIM:608323
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Early Myoclonic Encephalopathy
Focal motor seizure, EEG abnormality, Generalized myoclonic seizure, Myoclonus, Infantile spasms,... ORPHA:1935
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, EEG abnormality, Spasticity, Seizure OMIM:619228
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... OMIM:601068
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Excessive daytime somnolence, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Glut1 Deficiency Syndrome 1
Ataxia, EEG abnormality, Myoclonus, Confusion, Paroxysmal lethargy, Choreoathetosis, Seizure, Let... OMIM:606777
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity OMIM:183050
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... DECIPHER:29
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
EEG abnormality, Confusion, Lethargy, Seizure OMIM:617900
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Benign Paroxysmal Torticollis Of Infancy
Ataxia, Drowsiness, Abnormal head movements ORPHA:71518
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Steppage gait OMIM:613641
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait OMIM:302801
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, C... ORPHA:2590
Null Syndrome
Ataxia, Inability to walk, Decreased nerve conduction velocity, Optic atrophy, Difficulty walking... ORPHA:280234
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, Bilateral tonic-clonic seizure, Seizure, Enhancement ... OMIM:615127
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Seizure ORPHA:79283
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Diff... OMIM:618912
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, EEG with spike-wave complexes, Focal aware seizure, Visually-in... OMIM:614417
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal impaired awareness seizure, EEG with generalized polyspikes, EEG w... ORPHA:725
Neuronopathy, Distal Hereditary Motor, Type Vc
Difficulty walking, Decreased compound muscle action potential amplitude OMIM:619112
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Absence of CD8... OMIM:269840
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, St... OMIM:610100
Developmental And Epileptic Encephalopathy 41
EEG abnormality, Inability to walk, Hypsarrhythmia, Seizure, Lethargy OMIM:617105
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Focal motor status epilepticus, Poor coordination, Cho... OMIM:619150
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Mantle Cell Lymphoma
Anorexia, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... ORPHA:308
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Decr... OMIM:609311
Immunodeficiency 83, Susceptibility To Viral Infections
EEG abnormality, Confusion, Lethargy, Seizure OMIM:613002
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, Diarrhea, B lymphocytopenia, T lymphocyt... ORPHA:277
Immunodeficiency 104
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Diarrhea, T lymphocytopenia, Failure to thri... OMIM:608971
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk ORPHA:431329
Developmental And Epileptic Encephalopathy 58
Status epilepticus, Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarr... OMIM:617830
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Squamous Cell Carcinoma Of The Esophagus
Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy ORPHA:99977
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Developmental And Epileptic Encephalopathy 97
Inability to walk, Stereotypical hand wringing, Epileptic spasm, Tremor, Hypsarrhythmia, Seizure OMIM:619561
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... ORPHA:98890
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, EEG with sp... OMIM:619317
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Seizure OMIM:618876
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Decreased nerve conduction velocity, Steppage gait ORPHA:352675
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Peripheral axonal neuropathy, Lethargy OMIM:613710
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... OMIM:619279
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Optic atrophy, Gait disturbance, Excessive daytime somnolence, Abnormal nerve conduction ... ORPHA:99014
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Periphe... ORPHA:99939
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure OMIM:208700
Developmental And Epileptic Encephalopathy 40
Myoclonus, Choreoathetosis, Hypsarrhythmia, Seizure, Lethargy OMIM:617065
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Abnormal nerve conduction velocity OMIM:619862
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... OMIM:618587
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Immunodeficiency 19
Failure to thrive, Diarrhea, Lymphopenia OMIM:615617
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abno... OMIM:162350
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Lymphopenia, Decreased proportion of C... OMIM:615615
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Loss of ambulation, EEG with spike-wave complexes, Myoclonus, Tremor, Myo... OMIM:614018
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gait d... OMIM:614561
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... OMIM:611637
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, G... OMIM:603472
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, EEG abnormality, Myoclonus, Seizure OMIM:600143
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera... OMIM:615369
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
Immunodeficiency 64
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Decreased circulati... OMIM:618534
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Inability to walk, Convulsive status epilepticus, Stereotypical hand wringing, C... OMIM:618760
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Epilepsy, Progressive Myoclonic, 8
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Fall... OMIM:616230
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decreased number of periphe... OMIM:600882
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality, Seizure OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality, Seizure OMIM:300425
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Autism
Motor stereotypy, EEG abnormality, Seizure OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality, Seizure OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality, Seizure OMIM:608636
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Developmental And Epileptic Encephalopathy 69
Status epilepticus, EEG abnormality, Inability to walk, Myoclonus, Hyperkinetic movements, Spasti... OMIM:618285
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... OMIM:254800
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, EEG abnormality, Generalized myoclonic seizure, Optic atrophy, Seizure OMIM:614706
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, Seizure OMIM:249900
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Lethargy OMIM:618683
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy, Seizure ORPHA:622
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Unsteady gait, Seizure OMIM:614063
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, ... OMIM:616981
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Febrile Infection-Related Epilepsy Syndrome
EEG abnormality, Lethargy, Focal-onset seizure ORPHA:163703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Seizure OMIM:617862
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:300400
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... OMIM:613855
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Huntington Disease-Like 1
EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Simultanaprax... ORPHA:157941
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Unsteady gait ORPHA:139536
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction vel... ORPHA:101081
Hyperprolinemia, Type I
Status epilepticus, Motor stereotypy, Ataxia, EEG abnormality, Seizure OMIM:239500
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Inability to walk, Onion bulb formation, Decreased motor nerve conduction veloci... OMIM:618184
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Seizure OMIM:616187
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Seizure OMIM:617787
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Abnormal autonomic nervous system physiology, EEG with focal epileptiform di... ORPHA:101046
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy, Seizure ORPHA:26
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Classic Glucose Transporter Type 1 Deficiency Syndrome
Status epilepticus, Ataxia, EEG abnormality, Myoclonus, Confusion, Choreoathetosis, Seizure, Leth... ORPHA:71277
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Decreased nerve conduction velocity, Seizure, Axonal degeneration OMIM:618138
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... OMIM:608105
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dystonia OMIM:125370
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Diarrhea, Failure to thrive, Neutropenia OMIM:613501
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral axonal neuropathy OMIM:600361
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly, Diarrhea, Increased circulating IgG level, Autoimm... OMIM:618495
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1368
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, EEG with centrotemporal foca... OMIM:117100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
EEG abnormality, Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea,... OMIM:614254
Autosomal Recessive Spastic Paraplegia Type 21
Gait disturbance, Abnormality of peripheral nerve conduction, Difficulty walking ORPHA:101001
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Chronic diarrhea, Lymph... OMIM:619164
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Abnormal nervous system electrophysiology, Myoclonus, Seizure OMIM:204500
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... OMIM:162500
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Dysmetria, Seizure OMIM:618404
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... OMIM:616409
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Seizure OMIM:618709
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Steppage gait OMIM:606595
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Chorea, Myoclonic seizure, Bilateral tonic-clonic s... OMIM:616139
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Lethargy, Seizure OMIM:618224
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... OMIM:616341
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... OMIM:617282
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Steppage gait OMIM:302802
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Feeding difficulties in infancy, Obesity, Nausea and vomiting, Lymphaden... ORPHA:99976
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Abdominal distention, Splenomegaly, Hepatic failure, Cachexi... ORPHA:75233
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Carcinoma Of Esophagus
Gastroesophageal reflux, Dysphagia, Obesity, Weight loss, Lymphadenopathy ORPHA:70482
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Inability to walk, Involuntary movements, Spasticity, Seizure,... OMIM:617820
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... ORPHA:2382
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Decreased cir... OMIM:605258
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Abdominal distention, Abdominal ... ORPHA:83469
Encephalopathy, Recurrent, Of Childhood
Choreoathetosis, Truncal ataxia, Lethargy, Athetosis OMIM:130950
Infantile Spasms Syndrome
Myoclonus, Infantile spasms, Hypsarrhythmia ORPHA:3451
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Severe Canavan Disease
Inability to walk, Optic atrophy, Bilateral tonic-clonic seizure, Seizure, Lethargy ORPHA:314911
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Inability to walk, Tonic seizure, Stereotypical hand wringing, ... OMIM:618917
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, EEG with focal epileptiform discharges, Epileptic spasm, Chorea, EEG with gener... ORPHA:88616
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Dysdiadochokinesis, Myo... OMIM:256731
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinsonism, Rigidit... OMIM:605407
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... OMIM:204300
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Somatic sensory dys... ORPHA:363710
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Failure to thrive, Lympho... ORPHA:276
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Gait ... ORPHA:101077
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity, Seizure OMIM:614322
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Broad-based gait, Decreased nerve conduction velocity, Tip-toe gait, Peripheral a... ORPHA:435387
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, EEG with focal epileptiform discharges, Myoclonus, Limb myoclonus,... ORPHA:263516
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Spasticity of facial muscles, Difficulty wa... OMIM:205100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Decreased proportion o... OMIM:617241
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Myoclonus, Seizure OMIM:618356
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function OMIM:615362
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Seizure, Dystonia OMIM:618497
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Degeneration of anterior horn cells, Myoclonus, Fasciculations, To... OMIM:159950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Absen... OMIM:600802
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral... OMIM:617836
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Loss of ambulation, Motor conduction block, Decreased motor nerve conduction velo... ORPHA:99953
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:86893
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, ... OMIM:619802
Developmental And Epileptic Encephalopathy 107
Motor stereotypy, Clonic seizure, Tonic seizure, Seizure OMIM:620033
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Failure to thrive, Decreased lymphocyte proliferation in re... ORPHA:169154
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Craniopharyngioma
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... ORPHA:54595
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Seizure OMIM:300271
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Inability to walk, Abnormal sensory nerve conduction velocity ORPHA:276435
Benign Adult Familial Myoclonic Epilepsy
EEG abnormality, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure ORPHA:86814
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1188
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... ORPHA:225147
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... ORPHA:36387
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... OMIM:617113
Hemimegalencephaly
Status epilepticus, Focal motor seizure, EEG with focal spikes, Atonic seizure, EEG with polyspik... ORPHA:99802
Reticular Dysgenesis
Failure to thrive, Leukopenia, Diarrhea, Abnormality of neutrophils, Weight loss, Decreased circu... ORPHA:33355
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:604563
Tsh-Secreting Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... ORPHA:91347
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonus, Ataxia, Lethargy, Seizure OMIM:618225
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, Ataxia, Action tremor, EEG abnormality, Broad-based gait... OMIM:617665
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Parkinsonism, Rigidity, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, EEG abnormality, Inability to walk, Dysmetria, Myoclonic seizure, Optic atrophy, ... OMIM:617810
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dysto... OMIM:618924
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Seizure OMIM:616540
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Jerky head movements, Difficulty walking, Spastic gait, Spastic ataxia ORPHA:251282
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, EEG with spike-wave c... OMIM:607631
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... ORPHA:13
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... ORPHA:98818
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocytosis, Panc... OMIM:618963
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure OMIM:545000
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper motor neuron morpholo... OMIM:221770
Alternating Hemiplegia Of Childhood 2
Status epilepticus, Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Seizure, Dystonia... OMIM:614820
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... ORPHA:98811
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Myoclonus, Babinski sign, Motor tics, Chorea, Frequent falls, Difficulty walkin... OMIM:500003
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Dravet Syndrome
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... ORPHA:33069
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, B... OMIM:245570
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Brady... OMIM:603516
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... ORPHA:98856
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure OMIM:619191
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Steppage gait OMIM:118300
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Dyst... OMIM:104290
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Difficulty walking, Spasticity, Seizure OMIM:617393
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:600131
Febrile Seizures, Familial, 8
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:607681
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental periphe... OMIM:145900
Ataxia-Pancytopenia Syndrome
Ataxia, Dysmetria, Decreased nerve conduction velocity, Unsteady gait OMIM:159550
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, EEG abnormality OMIM:614115
Primary Lateral Sclerosis, Juvenile
Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Abnormal upper motor neuron morp... OMIM:606353
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Decreased nerve conduction velocity ORPHA:2928
Burkitt Lymphoma
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... ORPHA:543
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Decreased distal sensory nerve action potential, Peripheral axonal neuropathy OMIM:618400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Seizure OMIM:274270
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... ORPHA:98820
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Episodic Ataxia Type 4
Ataxia, Abnormal head movements ORPHA:79136
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis OMIM:607641
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Par... ORPHA:53583
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... OMIM:614558
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Tip-toe gait, Frequent falls, Optic disc pallor, Gait disturbanc... ORPHA:216866
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Failure to thrive, Lymphopenia, Decreased... ORPHA:331206
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... OMIM:616100
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... OMIM:308230
Roussy-Lévy Syndrome
Limb ataxia, Decreased motor nerve conduction velocity, Difficulty walking, Gait ataxia, Unsteady... ORPHA:3115
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia OMIM:615924
Sagliker Syndrome
Short stature, Elevated circulating parathyroid hormone level, Depression, Anxiety, Waddling gait ORPHA:300493
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Clonic seizure, Generalized myoclonic seizure, EEG with burst suppression, Bi... OMIM:266100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Optic atrophy, Tremor, Seizure, Spastic tetraparesis OMIM:619470
Wolfram-Like Syndrome
Progressive cerebellar ataxia, Primary gonadal insufficiency, Depression, Severe postnatal growth... ORPHA:411590
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... ORPHA:1941
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Seizure, Dystonia OMIM:617493
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:98293
Progressive Myoclonic Epilepsy With Dystonia
Status epilepticus, Hemiplegia, Generalized myoclonic seizure, EEG with irregular generalized spi... ORPHA:352596
Atypical Rett Syndrome
Loss of ambulation, EEG abnormality, Inability to walk, Generalized myoclonic seizure, Hand aprax... ORPHA:3095
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... OMIM:619725
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Optic atrophy, Fasciculations, Generalized clon... OMIM:611721
Alpha-Heavy Chain Disease
Hepatomegaly, Abdominal pain, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Generalized myoclonic seizure, Athetosis, Gait disturbance, Hypsarrhythmia, Gene... OMIM:618141
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Inability to walk, Paucity of anterior horn motor neurons, Abnormal anterior hor... OMIM:611890
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Hypogonadism, Postnatal growth retardation, Central hypothyroidism OMIM:616113
Immunodeficiency 7
Failure to thrive, Lymphadenopathy, Hypereosinophilia OMIM:615387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Diarrhea, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia, Fail... OMIM:601457
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure OMIM:612016
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Gait disturbance, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal ... ORPHA:139578
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Facial palsy, Lethargy, Seizure OMIM:201470
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, EEG abnormality, Generalized myoclonic seizure, Hyperkinetic movement... OMIM:271980
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619157
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... ORPHA:100988
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Anorexia, Chronic noninfectious lymphadenopathy, Weight loss,... ORPHA:100083
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Abnormal... ORPHA:382
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism, Anxiety, Aggressive behavior OMIM:618286
Familial Alzheimer-Like Prion Disease
Depression, Anxiety, Emotional lability ORPHA:280397
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:79137
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity, Spastic gait ORPHA:100998
Glycine Encephalopathy
Myoclonus, Lethargy, Seizure OMIM:605899
Leukoencephalopathy With Vanishing White Matter
Optic atrophy, Gait disturbance, Unsteady gait, Seizure, Lethargy OMIM:603896
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Myoc... OMIM:619092
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Leukopenia, Abnormal ... ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa... OMIM:308240
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Febrile seizure (within the age range of 3 months to 6 years), Progressive cerebellar ataxia OMIM:618412
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Inability to walk, Hyperkinetic movements, Choreoathet... OMIM:618218
Charcot-Marie-Tooth Disease Type 4D
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Inab... ORPHA:99950
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Brain abscess, Abnormalit... ORPHA:54251
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Optic atrophy, Freq... ORPHA:254343
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Optic atrophy, Bilateral tonic-clonic seizure, Choreoathetosis, Mu... OMIM:609056
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Abdominal pain, Diarrhea, Increased ... OMIM:617099
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Lowe... OMIM:619028
Spinocerebellar Ataxia Type 1
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Optic... ORPHA:98755
Developmental And Epileptic Encephalopathy 103
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... OMIM:619913
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Distal sensory impairment, Tetraparesis, Spastic paraplegia, Gait distur... OMIM:263570
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnutrition, Intest... OMIM:613662
N-Acetylglutamate Synthase Deficiency
Seizure, Coma, Lethargy, Confusion OMIM:237310
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Myoclonus, Optic atrophy, Seizure, Lethargy OMIM:614299
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp... OMIM:609446
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... ORPHA:79263
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Seizure OMIM:619851
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Gaba-Transaminase Deficiency
Lethargy, Seizure OMIM:613163
Galactose Epimerase Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly, Nausea and vomiting, Weight loss, Jaundice ORPHA:79238
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Dystonia OMIM:619065
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Inability to walk, Spasticity, Generalized myoclonic seizure, EE... ORPHA:168491
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Clonic seizure, Spastic tetraplegia, Seizure OMIM:615282
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
New-Onset Refractory Status Epilepticus
Status epilepticus, EEG with spike-wave complexes, Focal impaired awareness seizure, Focal aware ... ORPHA:363558
Foxg1 Syndrome
Status epilepticus, Motor stereotypy, Inability to walk, Myoclonus, Infantile spasms, Hyperkineti... ORPHA:561854
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, Diarrhea, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent apht... OMIM:150550
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Diarrhea, B lymphocytopenia, T lymphocytopenia, Inflammation of the... OMIM:618108
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... ORPHA:26790
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea... ORPHA:247815
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, EEG with burst suppression, Spastic tetrap... OMIM:619971
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Meningioma
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... ORPHA:2495
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Lethal Infantile Mitochondrial Myopathy
Lethargy, Seizure ORPHA:254857
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Infantile spasms, Stereotypical hand wringing, Gait disturbance, Diffi... ORPHA:505652
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... OMIM:607136
Secretory Component Deficiency
Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awareness seizure OMIM:610003
Leukodystrophy, Hypomyelinating, 2
Ataxia, Focal impaired awareness seizure, Focal aware seizure, Decreased motor nerve conduction v... OMIM:608804
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... OMIM:616688
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Bilateral tonic-clon... ORPHA:726
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... OMIM:302800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... OMIM:603909
Coproporphyria, Hereditary
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Vomiting, Jaundice OMIM:121300
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Steppage gait, Facial palsy OMIM:607684
Combined Immunodeficiency Due To Zap70 Deficiency