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Gene: Plaur MGI:97612

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Gene Summary

Name:
plasminogen activator, urokinase receptor
Synonyms:
uPAR,  urokinase-type plasminogen activator receptor,  u-PAR,  Cd87

Order Alleles

IMPC Data Collections

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
decreased prepulse inhibition Plaurem1(IMPC)H HOM Early adult 2.96×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Echo

M-Mode Images

36 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Plaur mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... OMIM:613494
Myoclonus-Dystonia Syndrome
Depression, Limb myoclonus, Myoclonus, Torticollis, Spinal myoclonus, Compulsive behaviors ORPHA:36899
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Depression, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, ... OMIM:162350
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki... ORPHA:401901
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Agenesis of corpus callosum, Bilateral tonic-clonic s... OMIM:616540
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Compulsive behaviors OMIM:159900
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Seizure, Confusion, Myoclonus, Emotional lability, Gait ataxia,... OMIM:615362
Creutzfeldt-Jakob Disease
Memory impairment, Depression, Extrapyramidal muscular rigidity, Confusion, Myoclonus, Gait ataxi... OMIM:123400
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Mental deterioration, Depression, Myoclonus, Abnormality of extrapyramidal motor function, Status... OMIM:204300
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Dementia, Generalized myoclonic seizure OMIM:208700
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Polymyoclonus, Infantile
Ataxia, Myoclonus, Irritability OMIM:263550
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor... ORPHA:79262
Lissencephaly 3
Seizure, Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Genera... OMIM:611603
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Focal impaired awareness seizure, Seizure, Generalized-onset seizure,... ORPHA:65683
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor ORPHA:308
Myoclonic Epilepsy Of Infancy
Mental deterioration, Poor motor coordination, Poor hand-eye coordination, Generalized non-motor ... ORPHA:86909
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Spastic tetraplegia, Seizure, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heter... OMIM:615411
Lissencephaly, X-Linked, 1
Spasticity, Seizure, Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria, Gray matter heterot... OMIM:300067
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Sub-Cortical Nodular Heterotopia
Spasticity, Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migrati... ORPHA:101029
Glycine Encephalopathy 1
Seizure, Myoclonus, Agenesis of corpus callosum, Irritability, Aggressive behavior, Hyperactivity... OMIM:605899
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder,... OMIM:619191
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Polymicrogyria, Bilateral Temporooccipital
Focal impaired awareness seizure, Polymicrogyria, Bilateral tonic-clonic seizure with focal onset... OMIM:612691
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Typical absence seizure, Limb myoclonus, Seizure, Myoclonus, Tremor, Abnorm... ORPHA:2590
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... OMIM:618357
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Lissencephaly 1
Seizure, Pachygyria, Spastic tetraparesis, Agyria, Gray matter heterotopia, Subcortical band hete... OMIM:607432
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Spasticity, Seizure, Infantile spasms, Gray matter heterotopia, Pachygyria, Agyria, Motor seizure ORPHA:1084
Lennox-Gastaut Syndrome
Mental deterioration, Myoclonus, Focal-onset seizure, Irritability, Generalized tonic seizure, Ag... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Seizure, Polymicrogyria, Generalized-onset seizure, Self-mutilation, Hemiparesis, ... OMIM:604317
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dementia, Choreoathetosis OMIM:125370
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Nodular Neuronal Heterotopia
Abnormality of neuronal migration, Seizure ORPHA:2149
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dysph... OMIM:261630
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Memory impairment, Lateral ventricle dilatation, Seizure, Inappropriate behavior, Fro... OMIM:221770
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal si... OMIM:615924
Microcephaly 9, Primary, Autosomal Recessive
Self-injurious behavior, Seizure, Aggressive behavior, Motor tics, Compulsive behaviors, Impulsiv... OMIM:614852
Hemimegalencephaly
Seizure, Polymicrogyria, Epileptic spasm, Gray matter heterotopia, Myoclonus, Hemiparesis, Focal ... ORPHA:99802
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Immunodeficiency 32B
Recurrent infections, Hypoalbuminemia, BCGitis, Impaired oxidative burst, Abnormal circulating Ig... OMIM:226990
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cutaneous abscess, Recurrent... OMIM:613953
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... OMIM:616421
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Restless legs OMIM:102300
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Limb ataxia, Myoclonus, Truncal ataxia, Bilateral tonic-clo... OMIM:616230
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Ataxia, Mot... OMIM:618709
Chudley-Mccullough Syndrome
Seizure, Polymicrogyria, Dysplastic corpus callosum, Gray matter heterotopia, Partial agenesis of... OMIM:604213
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Bilateral tonic-clonic seizure with generalized onse... ORPHA:1083
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure OMIM:615127
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Emotional l... ORPHA:254343
Myoclonic Epilepsy Of Unverricht And Lundborg
Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ... OMIM:254800
Adult Idiopathic Neutropenia
Lymphopenia, Helicobacter pylori infection, Recurrent fungal infections, Monocytopenia, Neutropen... ORPHA:2688
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Infantile spasms, Hypertonia, Periventricular ribbo... OMIM:618677
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep... OMIM:300635
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Infantile spasms, Focal motor seizure, Seizure OMIM:615544
Foxg1 Syndrome
Spasticity, Bruxism, Infantile spasms, Myoclonus, Agenesis of corpus callosum, Hyperkinetic movem... ORPHA:561854
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Dysphagia, Dementia, Frequen... OMIM:159950
Epilepsy, Progressive Myoclonic, 6
Ataxia, Memory impairment, Generalized non-motor (absence) seizure, Myoclonus, Tremor, Bilateral ... OMIM:614018
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt... ORPHA:169079
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia, Seizure, Tetraparesis OMIM:608097
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Dravet Syndrome
Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism... ORPHA:33069
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... OMIM:608184
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Tremor, Dysmetria, Oppositional defiant disorder, Bilateral toni... OMIM:619028
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... ORPHA:60
Spinocerebellar Ataxia 17
Depression, Seizure, Confusion, Frontal lobe dementia, Chorea, Myoclonus, Limb ataxia, Dysmetria,... OMIM:607136
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Myoclonic seizure, Seizure, Polymicrogyria, Epileptic spasm,... OMIM:614254
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:607594
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Epilepsy, Progressive Myoclonic, 11
Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favora... ORPHA:314632
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Spasticity, Seizure OMIM:618185
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... OMIM:616981
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Symmetrical Thalamic Calcifications
Spasticity, Seizure, Abnormality of neuronal migration, Cognitive impairment, Hypertonia, Ataxia ORPHA:1314
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Seizure, Myoclonus, Aggressive behavior, Limb tremor, Hypertonia, Focal ... OMIM:300699
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Confusion, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoa... OMIM:606777
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Oromotor apraxia, Lateral ventricle dilatation, Seizure, Polymicrogyria... ORPHA:300573
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi... OMIM:620632
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson... OMIM:605407
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Huntington Disease
Mental deterioration, Oral-pharyngeal dysphagia, Polyphagia, Clonus, Bradykinesia, Poor fine moto... ORPHA:399
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior,... ORPHA:208441
Juvenile Huntington Disease
Depression, Seizure, Chorea, Myoclonus, Gait ataxia, Irritability, Rigidity, Hyperactivity, Ataxi... ORPHA:248111
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Compulsive behaviors, Myoclonus, Agitation, Tremor OMIM:619651
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation OMIM:260570
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia OMIM:266265
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo... OMIM:608105
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... OMIM:231100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Cognitive impairment, Tr... OMIM:607346
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I... OMIM:607676
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Hypertonia, Cognitive impairment, Seizure ORPHA:2216
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Dystonia 3, Torsion, X-Linked
Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor OMIM:314250
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Confusion, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Extrapyramida... ORPHA:71277
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Motor tics, Clonus, Pa... OMIM:500003
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Pseudobulbar paralysis, Cognitive impairment, Bilateral tonic-clonic seizure, Aty... OMIM:300388
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto... ORPHA:1935
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Irritability, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis OMIM:609056
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Agg... OMIM:600795
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Clu... ORPHA:79263
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Generalized myoclonic seizure, Typical absence seizure, Late... ORPHA:208447
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Seizure, Epileptic spasm, Myoclonus, Attention deficit hyperactivity disorder, Ataxia, Erratic my... OMIM:619971
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat... OMIM:619858
Combined Saposin Deficiency
Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure OMIM:611721
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Bruxism, Myoclonus, Stereotypical hand wringing, Hyp... OMIM:618497
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:545000
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... OMIM:613313
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dementia, Frequent falls, Generalized... OMIM:301020
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Depression, Seizure, Myoclonus, Irritability, Ataxia, Psychomotor deterioration OMIM:256730
Band Heterotopia
Spasticity, Lateral ventricle dilatation, Seizure, Polymicrogyria, Agenesis of corpus callosum, G... OMIM:600348
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Spastic paraplegia, Seizure OMIM:618572
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Peho-Like Syndrome
Polymicrogyria, Myoclonus, Bilateral tonic-clonic seizure, Pachygyria, Status epilepticus, Lissen... OMIM:617507
Lissencephaly 10
Depression, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... OMIM:618873
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Upper limb spasticity, Depression, Seizure, Generalized non-motor (absen... ORPHA:485350
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Myoclonus, Gait ataxia, Focal hemiclonic ... OMIM:620145
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Seizure, Ataxia OMIM:600143
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, Seizure, Myoclonus, Disinhibition, Babinski sign, Apraxia, Dementia OMIM:618193
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni... ORPHA:1949
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag... OMIM:615214
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Depression, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormali... ORPHA:13
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Myoclonus, Dysmetria, Clumsiness, Limb tremor, Motor deterioration, Ataxia, Dysdiadochok... OMIM:256731
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulating interle... ORPHA:319552
Geniospasm 1
Chin myoclonus OMIM:190100
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Elevated gamma... OMIM:278000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre... ORPHA:369
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Attention deficit hyperactivity disorder, P... OMIM:619725
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls OMIM:619647
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal ... ORPHA:352596
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Irritability, Tonic seizure, Bilateral tonic-clonic seizure, Hypert... OMIM:617290
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C... ORPHA:98813
Cerebral Palsy, Spastic Quadriplegic, 3
Spasticity, Seizure, Abnormal pyramidal sign, Cognitive impairment, Gray matter heterotopia, Dysp... OMIM:617008
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Spastic tetraplegia, Myoclonus, Status epilepticus OMIM:618285
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Subependymal Nodular Heterotopia
Limb myoclonus, Seizure, Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotop... ORPHA:101030
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Developmental And Epileptic Encephalopathy 16
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil... OMIM:615338
Hsd10 Disease
Spastic paraparesis, Seizure, Myoclonus, Short attention span, Tremor, Rigidity, Ataxia, Dysphagi... ORPHA:391417
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism, Bilateral tonic-c... OMIM:204200
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Myoclonus, Dysmetria, Agenesis of corpus callosum, Irritability, Head titubation, Ataxia... OMIM:250620
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Abnormal pyramidal sign, Bradykinesia, Progressive cerebellar ataxia, Slurred... ORPHA:282166
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Cognitive impairm... ORPHA:306511
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Parkinsonism, Oculomotor apraxia... ORPHA:1020
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Fasciculat... ORPHA:275864
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:726
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Seizure, Ataxia OMIM:204500
Abeta Amyloidosis, Iowa Type
Dementia, Memory impairment, Myoclonus, Dysphagia ORPHA:324708
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Short attention span, Irritability, Babinski sign, Hypertonia, Ata... ORPHA:401866
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Dystonia 23
Head tremor, Myoclonus, Torticollis OMIM:614860
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib... OMIM:619111
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Choreoathetosis OMIM:617065
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Depression, Limb ataxia, Myoclonus, Emotional lability, Gait ataxi... OMIM:137440
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduced ... OMIM:232400
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... ORPHA:331206
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Motor stereotypy, ... OMIM:620065
Spinocerebellar Ataxia With Epilepsy
Depression, Dysdiadochokinesis, Myoclonus, Gait ataxia, Dysmetria, Tremor, Progressive neurologic... ORPHA:254881
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Caribbean Parkinsonism
Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism,... ORPHA:97355
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr... ORPHA:33110
Spinocerebellar Ataxia 50
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia OMIM:620158
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Mental deterioration, Spasticity, Myoclonic seizure, Typical absence seizure, Atonic seiz... ORPHA:168491
Mitochondrial Complex I Deficiency, Nuclear Type 31
Progressive neurologic deterioration, Dysmetria, Myoclonus, Seizure OMIM:618251
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Hypertonia, Dysphagia OMIM:225753
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Alzheimer Disease 3
Memory impairment, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:607822
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Developmental And Epileptic Encephalopathy 92
Spasticity, Myoclonus, Seizure, Ataxia OMIM:617829
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Appendicular spas... OMIM:620352
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Seizure, Cerebral palsy, Low frustration toleranc... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Lateral ventricle dilatation, Seizure, Myoclonus, Short attention span, Clumsiness, A... OMIM:617854
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Dystonia 6, Torsion
Myoclonus, Torticollis OMIM:602629
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure OMIM:618425
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Posttransplant Acute Limbic Encephalitis
Memory impairment, Depression, Seizure, Confusion, Myoclonus, Cognitive impairment, Ataxia ORPHA:163921
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... OMIM:614172
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizur... ORPHA:3095
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Depression, Spastic paraparesis, Myoclonus, Ataxia, Dementi... OMIM:231000
Dystonia 26, Myoclonic
Blepharospasm, Depression, Myoclonus, Torticollis OMIM:616398
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Seizure ORPHA:166063
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Seizure, Myoclonus, Ataxia, Pachygyria OMIM:620094
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosu... ORPHA:250972
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... OMIM:306400
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism... OMIM:606693
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Melioidosis
Pneumonia, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen... ORPHA:31202
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Memory impairment, Confusion, Myoclonus, Upper motor neuron dysfunction, Abnormality ... ORPHA:204
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Irritability, Rigidity, Babinski sign, Parkinsonism, Abn... ORPHA:101150
Dystonia 28, Childhood-Onset
Spasticity, Retrocollis, Myoclonus, Tremor, Cognitive impairment, Torticollis OMIM:617284
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Myoclonus, Limb hypertonia, Irritability OMIM:607196
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia OMIM:619065
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Cutaneous absces... OMIM:243700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Re... OMIM:617600
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Seizure, Pachygyria, Generali... OMIM:619827
Narp Syndrome
Seizure, Irritability, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia, Dementia ORPHA:644
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Congenital Disorder Of Glycosylation, Type In
Spasticity, Myoclonus, Seizure, Ataxia OMIM:612015
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Depression, Seizure, Emotional lability, Clumsiness, Parkinsonism, Motor... ORPHA:79264
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Progressive psychomotor deterioration, Tetraparesis... ORPHA:363400
Brain Small Vessel Disease 2
Polymicrogyria, Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Subcortical hete... OMIM:614483
Developmental And Epileptic Encephalopathy 1
Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyramidal sign, Dysphagia, Hyperto... OMIM:308350
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Seizure, Epileptic spasm, Myoclonus, Hypertonia, Spastic tetrapares... ORPHA:284417
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610090
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired ... OMIM:618935
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Stereo... ORPHA:289266
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Periventricular nodular heterotopia, Focal-onset ... ORPHA:352582
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Bilateral tonic-clonic seizure, Ataxia, D... OMIM:607876
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Seizure ORPHA:1980
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Resting tremor, Seizure, Tremor, Irritability, Aggressive behavio... ORPHA:3077
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Developmental And Epileptic Encephalopathy 103
Ataxia, Spastic tetraplegia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epilepti... OMIM:619913
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Myoclonus, Rigidity, Irritability, Athetosis OMIM:618241
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize... OMIM:619092
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Dementia, Myoclonus, Seizure, Abnormality of extrapyramidal motor function OMIM:604218
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Head tremor, Limb ataxia, Dys... ORPHA:276198
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Myoclonus, Cogwheel rigidity, Gait ataxia, Rigidity, Babinski sign, Dys... ORPHA:225154
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis OMIM:616629
Lissencephaly 6 With Microcephaly
Spasticity, Seizure, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Limb hypert... OMIM:616212
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, Bi... ORPHA:313772
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei... OMIM:610539
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Myoclonus, Intractable, Neonatal
Chorea, Impaired oral bolus formation, Myoclonus, Athetosis, Dysphagia, Clonic seizure OMIM:617235
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia, Dysphagia OMIM:619862
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Seizure, Limb ataxia... ORPHA:101
Gerstmann-Straussler-Scheinker Syndrome
Mental deterioration, Limb myoclonus, Gait ataxia, Abnormality of extrapyramidal motor function, ... ORPHA:356
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus, Seizure OMIM:610992
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines... ORPHA:98810
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Spasticity, Involuntary movements, Seizure, Abnormality of coordination, My... ORPHA:442835
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal lower motor neuron morphol... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Fasciculations, Disinhibition, Abnormal lower motor neuron morphol... OMIM:616437
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Self-injurious behavior, Seizure, Stereotypical hand wringing ORPHA:397933
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,... OMIM:606703
Mpi-Cdg
Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentration or activity... ORPHA:79319
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:139485
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Polymicrogyria, Myoclonus, Gait ataxia, Tremor, Rigidity, Par... OMIM:618877
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... ORPHA:158061
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ... OMIM:271980
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Seizure, Febrile seizure (within t... OMIM:619847
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Recurrent cutaneous abscess formation, ... ORPHA:47
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Agenesis of corpus callosum, Dyspha... OMIM:617669
Lafora Disease
Ataxia, Mental deterioration, Spasticity, Depression, Generalized myoclonic seizure, Focal impair... ORPHA:501
Hyperekplexia 4
Hypertonia, Infantile spasms, Myoclonus, Seizure OMIM:618011
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria, Seizure ORPHA:352682
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis ORPHA:848
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Alexander Disease
Spasticity, Seizure, Dysmetria, Babinski sign, Ataxia, Palatal tremor OMIM:203450
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Leukemia, Lymphopenia, Recurrent infection of the ga... ORPHA:486
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... ORPHA:331235
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Spinocerebellar Ataxia 13
Spasticity, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyramidal sign, Cogniti... OMIM:605259
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... ORPHA:79230
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Absent neutrophil specific granules, Anemia,... OMIM:617475
Glutathionuria
Action tremor, Tremor, Agenesis of corpus callosum, Gray matter heterotopia, Dysdiadochokinesis OMIM:231950
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkineti... OMIM:617493
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Familial Dyskinesia And Facial Myokymia
Chorea, Myoclonus, Resting tremor, Limb hypertonia ORPHA:324588
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... OMIM:214500
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Aggressive behavior, Hypertonia, ... OMIM:618356
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Frontotemporal dementia, Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech ORPHA:3327
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Cognitive impairment, Ataxia... OMIM:616640
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphology... OMIM:602099
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Myoclonus, Babinski sign, Cognitive impairment, Ataxia, Truncal ataxia OMIM:252011
Early-Onset Lafora Body Disease
Mental deterioration, Seizure, Confusion, Myoclonus, Ataxia, Spastic tetraparesis ORPHA:324290
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Polymicrogyria, Myoclonus, Seizure, Rigidity OMIM:300673
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Involuntary movements, Myoclonus, Dysmetria, Abnormal pyramidal sign, Dysph... OMIM:619780
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, El... OMIM:116920
Frontotemporal Dementia With Motor Neuron Disease
Depression, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnormality of ... ORPHA:275872
Nipah Virus Disease
Tremor, Myoclonus, Seizure, Anorexia ORPHA:99825
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent streptococcal infectio... ORPHA:167
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Re... OMIM:307200
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Severe varicella zoster infection, Recurren... OMIM:606367
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Choreoathetosis OMIM:312170
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Myoclonic seizure, Infantile spasms, Myoclonus, Irritability, Opisthotonus, Tonic sei... OMIM:615851
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Alexander Disease Type I
Spasticity, Seizure, Abnormal pyramidal sign, Ataxia, Dysphagia, Palatal tremor ORPHA:363717
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Omenn Syndrome
Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hypoplasia of the thymus, Eos... OMIM:603554
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Depression, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Ankle clonus... OMIM:613954
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Lichen Planopilaris
Hepatitis ORPHA:525
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly OMIM:615630
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... ORPHA:64280
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Torticollis, Vocal tremor ORPHA:420485
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia OMIM:618225
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Seizure, Myoclonus, Gait ataxia, Rigidity, Abnormal pyrami... ORPHA:391411
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... ORPHA:186
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Depression, Seizure, Tremor, Hyperkinetic movements, Abnormality of neuronal migration OMIM:300957
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... OMIM:619738
Immunodeficiency 12
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... OMIM:615468
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Chorea,... ORPHA:53351
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Mental deterioration, Spasticity, Depression, Pill-rolling tremor, Re... OMIM:612953
Serotonin Syndrome
Mental deterioration, Seizure, Confusion, Myoclonus, Tremor, Irritability, Rigidity, Clonus, Hype... ORPHA:43116
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Seizure, Simplified gyral p... OMIM:616171
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis ORPHA:1163
Lissencephaly Syndrome, Norman-Roberts Type
Seizure, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlissencephaly, Dysp... ORPHA:89844
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Decreased l... OMIM:617093
Amyotrophic Lateral Sclerosis 18
Spasticity, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circulating IgE le... OMIM:620565
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T cell functio... OMIM:613179
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Riboflavin Transporter Deficiency
Seizure, Myoclonus, Tremor, Aggressive behavior, Ataxia, Dysphagia ORPHA:97229
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:274240
Ataxia-Telangiectasia-Like Disorder
Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Frequent... ORPHA:251347
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl... ORPHA:829
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Irritability, Hyperkinetic movements, Limb hypertonia, Progressive neu... OMIM:233910
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Severe B lymphocytopenia, Chronic mucocutaneous ... OMIM:102700
Lissencephaly 5
Spastic paraplegia, Seizure, Type II lissencephaly, Gray matter heterotopia, Subcortical band het... OMIM:615191
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg... OMIM:606003
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms... OMIM:614498
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... ORPHA:91138
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Cognitive ... ORPHA:171695
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Dys... OMIM:617281
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Amyotrophic Lateral Sclerosis 1
Spasticity, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Fasciculations, Dysphagia, Deg... OMIM:105400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Decreased liver function OMIM:238970
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Depression, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Dementia, Br... OMIM:168601
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus OMIM:618201
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Frontal lobe dementia, Chorea, Emotional la... ORPHA:157846
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate... OMIM:615486
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Cirrhosis OMIM:602579
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv... OMIM:269200
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clu... OMIM:617282
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Rigidity OMIM:619057
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Necrotizing entero... OMIM:201475
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Seizure, Epileptic spasm, Myoclonus, Agenesis of corpus callosum, Vocal cord paralysi... ORPHA:500144
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... ORPHA:549
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Rec... OMIM:612840
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Incre... OMIM:615816
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... ORPHA:169090
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... OMIM:603585
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Seizure, Agenesis of corpus callosum OMIM:617622
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct... OMIM:216360
Hereditary Hyperekplexia
Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Hypertonia, Ataxia ORPHA:3197
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Chorea, Progressive spastic quad... ORPHA:309246
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Limb myoclonus, Seizure, Confusion, Short attention span... ORPHA:139396
Schindler Disease, Type I
Spasticity, Myoclonus, Seizure OMIM:609241
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:454836
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Seizure, Myoclonus, Tremor,... ORPHA:199351
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Hyperkinetic movements, Motor stereotypy, Ataxia,... OMIM:618218
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Seizure, Periventricular heterotopia, Oculomotor apraxia, Truncal ataxia, Simplified gyral pattern OMIM:618273
Tay-Sachs Disease
Memory impairment, Depression, Typical absence seizure, Seizure, Frequent falls, Incoordination, ... ORPHA:845
Adenylosuccinase Deficiency
Spasticity, Seizure, Hemiplegia, Inappropriate laughter, Myoclonus, Gait ataxia, Self-mutilation,... OMIM:103050
Peho Syndrome
Pachygyria, Myoclonus, Seizure, Polymicrogyria OMIM:260565
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Griscelli Syndrome
Hepatomegaly, Jaundice, Hepatitis, Splenomegaly ORPHA:381
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos... ORPHA:228426
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Focal sensory seizure with visual features, Generalized non-motor ... OMIM:254780
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Lateral ve... OMIM:619229
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan... ORPHA:247585
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Po... OMIM:619487
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... ORPHA:2552
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Myoclonus, Emotional lability, Irritability, Babinski sign, Tongue thrusting, Limb... OMIM:608643
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cholestasis, Skin rash, Infectious encephalitis, Myocarditis ORPHA:292
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:37042
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Seizure, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor funct... ORPHA:79279
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Dysphagia, Palatal tremor ORPHA:363722
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Seizure, Inappropriate laughter, Abnormal eating behavior, Myoclonus, Short attention span, Tremo... ORPHA:98794
Gm1-Gangliosidosis, Type Iii
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:230650
Stiff-Person Syndrome
Depression, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls OMIM:184850
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Seizure, Generalized-onset seizure, Periventricular nodular heterotopia, Tremo... OMIM:619737
D-Glyceric Aciduria
Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticit... OMIM:220120
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Focal-onset seizure OMIM:618972
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Dominant Beta-Thalassemia
Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Cirrhosis, Chronic hepatitis, ... ORPHA:231226
Infantile Krabbe Disease
Mental deterioration, Spasticity, Seizure, Myoclonus, Irritability, Ankle clonus, Opisthotonus, L... ORPHA:206436
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc... OMIM:618060
Isolated Sedoheptulokinase Deficiency
Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease ORPHA:440713
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Spinocerebellar Ataxia Type 13
Seizure, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Dysphagia, Torticollis, Bradykinesia, T... ORPHA:98768
Hyperekplexia 1
Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls OMIM:149400
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Myoclonus, Hypertonia OMIM:618240
Leber Congenital Amaurosis
Abnormality of neuronal migration, Hemiplegia/hemiparesis, Seizure ORPHA:65
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Intention tremor OMIM:616505
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... OMIM:612949
Combined Oxidative Phosphorylation Deficiency 27
Mental deterioration, Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizu... OMIM:616672
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal hemiclonic seizure, Dysphagia, Generalized non-motor (absence) seizure, Cerebral palsy, Pol... OMIM:616973
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Recurrent pneumonia, Elevated gamma-glutamyltransferase le... ORPHA:731
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:164180
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... ORPHA:79240
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Seizure, Tremor, Self-mutilation, Hyperkinetic movements, Bilateral tonic-clonic seiz... ORPHA:457240
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Seizure, Progressive spastic paraplegia, Myoclonus, Babinski sign, Sciss... ORPHA:466722
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Seizure OMIM:300049
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... OMIM:607330
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Nmda Receptor Encephalitis
Involuntary movements, Memory impairment, Depression, Seizure, Generalized-onset seizure, Confusi... ORPHA:217253
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Hepatomegaly OMIM:613385
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:333
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Dystonia 34, Myoclonic
Head tremor, Myoclonus, Hand tremor, Torticollis OMIM:619724
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Lateral ventricle dilatation, Seizure, Myoclonus, Hypertonia ORPHA:3078
Angelman Syndrome
Ataxia, Self-injurious behavior, Seizure, Inappropriate laughter, Infantile spasms, Myoclonus, Re... ORPHA:72
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Recurre... OMIM:608233
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Depression, Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Clonus, Cognitive imp... OMIM:301310
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Atopic dermatitis, Elevated gamma-glutamyltransferase level, Conjunctivitis, Pa... OMIM:620376
Unilateral Polymicrogyria
Spastic tetraplegia, Involuntary movements, Seizure, Pseudobulbar paralysis, Infantile spasms, My... ORPHA:268943
Hyperekplexia 3
Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus, Seizure OMIM:619814
Brain-Lung-Thyroid Syndrome
Involuntary movements, Incoordination, Chorea, Abnormal eating behavior, Myoclonus, Short attenti... ORPHA:209905
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Chronic Mucocutaneous Candidiasis
Skin rash, Cheilitis, Hepatitis ORPHA:1334
Valinemia
Hyperkinetic movements OMIM:277100
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Infantile spasms, Dysphagia OMIM:618374
Fragile X Syndrome
Seizure, Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Sandhoff Disease, Infantile Form
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st... ORPHA:309155
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Irritability, Ankle clonus, Impulsivity,... OMIM:620423
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Galloway-Mowat Syndrome 10
Myoclonus, Simplified gyral pattern OMIM:619609
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis ORPHA:319218
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Seizure, Myoclonus, Self-mutilation, Babinski sign, Aggressive behavior, Bilateral to... ORPHA:364028
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Memory impairment, Depression, Seizure, Myoclonus, Gait ataxia, Cognitive impairment ORPHA:70595
D-Glyceric Aciduria
Spasticity, Chorea, Myoclonus, Seizure ORPHA:941
Microcephaly-Capillary Malformation Syndrome
Seizure, Infantile spasms, Myoclonus, Spastic tetraparesis, Simplified gyral pattern OMIM:614261
Fatal Familial Insomnia
Dementia, Myoclonus, Dysphagia, Ataxia OMIM:600072
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Aggressive Systemic Mastocytosis
Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, Leukoc... ORPHA:98850
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Chiari Malformation Type Ii
Agenesis of corpus callosum, Opisthotonus, Ataxia, Gray matter heterotopia, Dysphagia OMIM:207950
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Mepan Syndrome
Spasticity, Chorea, Myoclonus, Ataxia, Dysphagia ORPHA:508093
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... ORPHA:728
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Irritability, Opisthotonus, ... OMIM:618076
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Spasticity, Seizure, Generalized non-motor (absence) seizure, Febrile se... ORPHA:1934
Japanese Encephalitis
Pill-rolling tremor, Anorexia, Myoclonus, Cogwheel rigidity, Tremor, Abnormality of extrapyramida... ORPHA:79139
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Myoclonus, Status epilepticus, Seizure ORPHA:79096
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Irritability, Aggressive behavior, Ata... OMIM:618321
Juvenile Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Dysmetria, Lower limb spasticity, Ataxia, Dysphagia, Generalized ... ORPHA:93399
Niemann-Pick Disease Type C
Mental deterioration, Speech apraxia, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Dysp... ORPHA:646
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus OMIM:619060
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c... OMIM:208500
Donohue Syndrome
Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia OMIM:246200
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Periventricular Nodular Heterotopia 7
Seizure, Polymicrogyria, Generalized non-motor (absence) seizure, Periventricular nodular heterot... OMIM:617201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Babinski sign, Pachygyria OMIM:608840
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia, Seizure OMIM:618974
Autoimmune Hypoparathyroidism
Depression, Confusion, Irritability, Myoclonic spasms, Hypocalcemic seizures ORPHA:36913
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Ataxia, Spastic g... OMIM:620538
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Mental deterioration, Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Gait ... OMIM:254900
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Seizure, Myoclonus, Opisthotonus, Oculomot... OMIM:614969
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Polyminimyoclonus, Dysphagia OMIM:619574
Dystonia-Aphonia Syndrome
Dysphagia, Myoclonus, Cognitive impairment, Seizure ORPHA:412217
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... OMIM:240300
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hep... OMIM:212065
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R... ORPHA:221139
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... OMIM:610984
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... ORPHA:1454
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227990
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Spasticity, Spastic tetraplegia, Seizure, Inappropriate laughter, Periventr... OMIM:618476
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Multifocal seizures, Motor stere... OMIM:300672
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus, Seizure OMIM:616158
3-Methylglutaconic Aciduria Type 7
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnor... ORPHA:445038
Pyruvate Dehydrogenase E1-Beta Deficiency
Seizure, Periventricular heterotopia, Agenesis of corpus callosum, Ataxia, Pachygyria ORPHA:255138
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia OMIM:614299
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Irritability, Hair-pulling, Motor stereotypy, Lower limb spasticity, Clonus, Hy... ORPHA:447997
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Whim Syndrome
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Abnormal neutrophil mo... ORPHA:51636
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Hypoamylasemia, Recurrent viral infections, Sepsi... ORPHA:811
Tetrasomy 18P
Abnormality of neuronal migration, Seizure ORPHA:3307
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... ORPHA:73263
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Spasticity, Seizure OMIM:619694
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ... OMIM:605711
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227982
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... OMIM:612541
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure OMIM:300337
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Coenzyme Q10 Deficiency, Primary, 1
Seizure, Myoclonus, Tremor, Right hemiplegia, Ataxia, Dysphagia, Status epilepticus OMIM:607426
Neuraminidase Deficiency
Dysmetria, Myoclonus, Seizure, Slurred speech OMIM:256550
Sialidosis Type 1
Seizure, Myoclonus, Tremor, Ataxia, Slurred speech ORPHA:812
Episodic Ataxia Type 7
Hyperkinetic movements, Cognitive impairment, Episodic ataxia ORPHA:209970
Beta-Thalassemia Major
Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Cirrhosis, Hepatomegaly, Jaund... ORPHA:231214
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Depression, Seizure, Myoclonus, Emotional lability, Dysmetria, Gait ataxia, Diminished ability to... OMIM:607459
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Kufor-Rakeb Syndrome
Blepharospasm, Mental deterioration, Confusion, Short attention span, Myoclonus, Upper motor neur... ORPHA:306674
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Tongue fasciculations, Myoclonus, Seizure OMIM:614922
Mednik Syndrome
Cholestasis, Hepatic fibrosis, Cirrhosis OMIM:609313
Desmosterolosis
Spasticity, Abnormal cortical gyration, Seizure, Polymicrogyria, Rigidity, Agenesis of corpus cal... ORPHA:35107
Congenital Muscular Dystrophy With Cerebellar Involvement
Seizure, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Abnormal pyramidal s... ORPHA:370959
Syndromic Diarrhea
Hepatic fibrosis, Abnormality of the liver, Splenomegaly, Hepatoblastoma, Cirrhosis, Gastritis, H... ORPHA:84064
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hypertonia, Seizure ORPHA:1895
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Frequent falls ORPHA:370980
Radio-Tartaglia Syndrome
Seizure, Tremor, Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivit... OMIM:619312
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Choreoathet... OMIM:616271
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Galloway-Mowat Syndrome
Seizure, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Cognitive impairment, Hyperto... ORPHA:2065
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Splenomegaly, Infectious encephalitis, Hepatomegaly, Fulminant hepatitis OMIM:308240
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram... OMIM:613135
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Splenomegaly, Chilblains, Hepatic st... OMIM:615846
Oromandibular Dystonia
Blepharospasm, Depression, Bruxism, Hyperkinetic movements, Torticollis, Dysphagia ORPHA:93958
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Walker-Warburg Syndrome
Abnormal cortical gyration, Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of ... ORPHA:899
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... OMIM:222470
Whipple Disease
Depression, Polydipsia, Seizure, Anorexia, Myoclonus, Abnormal pyramidal sign, Ataxia ORPHA:3452
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Infantile spasms, Periventricular heterotopia, Agenesis of corpus callos... OMIM:618929
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,... OMIM:613839
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Seizure, Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly, Simpl... OMIM:615219
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Myoclonus, Limb tremor, Torticollis ORPHA:420492
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Chronic mucocutaneous can... ORPHA:391487
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment, Seizure ORPHA:93274
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Seizure ORPHA:44
Cog8-Cdg
Myoclonus, Seizure, Ataxia ORPHA:95428
Opsoclonus-Myoclonus Syndrome
Limb myoclonus, Myoclonus, Irritability, Rigidity, Cognitive impairment, Ataxia ORPHA:1183
Acute Disseminated Encephalomyelitis
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis ORPHA:83597
Bilateral Perisylvian Polymicrogyria
Spasticity, Spastic tetraplegia, Oromotor apraxia, Bilateral perisylvian polymicrogyria, Seizure,... ORPHA:98889
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Enterocolitis OMIM:243150
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis OMIM:200995
Optic Atrophy 11
Seizure, Stereotypical body rocking, Dysmetria, Hyperkinetic movements, Attention deficit hyperac... OMIM:617302
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Spastic tetraplegia, Seizure OMIM:614462
Melas
Memory impairment, Depression, Seizure, Abnormal central motor function, Short attention span, My... ORPHA:550
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Seizure, Epileptic spasm, Speech apraxia, Myoclonus, Bilateral tonic-clonic seizure with generali... ORPHA:314655
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Cerebral palsy, Periventricular heterotopia, Irritability, Aggressive be... OMIM:619833
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Depression, Myoclonic spasms, Irritability ORPHA:94089
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Myoclonus, Seizure, Progressive psychomotor deterioration ORPHA:251004
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Splenomegaly, Skin ra... OMIM:619381
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cir... ORPHA:14
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Seizure, Polymicrogyria OMIM:617397
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Spastic tetraplegia, Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral ton... OMIM:620024
Molybdenum Cofactor Deficiency, Type B
Seizure, Irritability, Opisthotonus, Bilateral tonic-clonic seizure, Myoclonic spasms, Hypertonia... OMIM:252160
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Resting tremor, Emotional lability, Hair-pull... ORPHA:2388
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... ORPHA:48435
Glucocorticoid Deficiency 2
Myoclonic seizure, Focal motor seizure, Myoclonus, Spastic tetraparesis OMIM:607398
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Seizure, Generalized-onset seizure, Infantile spasms, Irritability, Hyperkinetic move... OMIM:612073
9P13 Microdeletion Syndrome
Bruxism, Attention deficit hyperactivity disorder, Myoclonus, Hand tremor ORPHA:324313
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis OMIM:207900
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abnormal ductus ch... ORPHA:436252
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Generalized-onset seizure, Agenesis of corpus callosum, Abnormality of n... ORPHA:261236
Hsd10 Disease, Infantile Type
Poor coordination, Seizure, Hyperkinetic movements, Paroxysmal bursts of laughter, Spastic tetrap... ORPHA:391428
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Anemia, Thrombocytopenia, Re... OMIM:617053
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... OMIM:616263
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Mccune-Albright Syndrome
Cholestasis, Hepatocellular adenoma, Pancreatitis, Hepatitis ORPHA:562
Adams-Oliver Syndrome
Cirrhosis, Portal hypertension, Congenital hepatic fibrosis ORPHA:974
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Cho... OMIM:266920
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment, Seizure ORPHA:2063
Acalvaria
Abnormality of neuronal migration ORPHA:945
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Splenomegaly, Gastritis, Glomer... ORPHA:3261
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Alg11-Cdg
Seizure, Opisthotonus, Limb hypertonia, Hypertonia, Ataxia, Gray matter heterotopia ORPHA:280071
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis ORPHA:91139
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Hypertonia, Seizure ORPHA:2518
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis OMIM:613989
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc... OMIM:620005
Primary Sjögren Syndrome
Arteritis, Biliary cirrhosis, Parotitis, Chronic hepatitis, Lymphocytic interstitial pneumonia, M... ORPHA:289390
Kawasaki Disease
Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Jaundice, Cheilitis,... ORPHA:2331
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 57
Myoclonus, Seizure OMIM:620167
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Myoclonus, Ataxia OMIM:560000
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hepat... OMIM:218330
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Hepatitis ORPHA:199299
Joubert Syndrome
Seizure, Polymicrogyria, Tremor, Abnormality of neuronal migration, Oculomotor apraxia, Ataxia ORPHA:475
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Oculomotor apraxia OMIM:615960
Leptospirosis
Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He... ORPHA:509
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Pachygyria, Partial agenesis of t... OMIM:614643
Congenital Sialidosis Type 2
Spasticity, Seizure, Myoclonus, Dysmetria, Ataxia ORPHA:93400
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Myoclonic seizure, Restlessness, Seizure, Oral-pharyngeal dysphagia, Chore... OMIM:615273
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Myoclonus, Gait ataxia, Appendicular spasticity, Bilateral tonic-cl... OMIM:620451
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperkinetic movements, Hypertonia, Seizure OMIM:236270
Cerebrotendinous Xanthomatosis
Spasticity, Depression, Spastic paraparesis, Resting tremor, Seizure, Progressive psychomotor det... ORPHA:909
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hepatic ... OMIM:203800
Periventricular Nodular Heterotopia
Periventricular heterotopia, Focal-onset seizure ORPHA:98892
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Spasticity, Oculomotor apraxia, Myoclonus ORPHA:2752
Man1B1-Cdg
Polyphagia, Periventricular heterotopia, Resting tremor, Seizure ORPHA:397941
Meckel Syndrome 14
Hepatic fibrosis OMIM:619879
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Ethylene Glycol Poisoning
Seizure, Confusion, Myoclonus, Euphoria, Addictive alcohol use, Ataxia, Slurred speech ORPHA:31826
Vici Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum ORPHA:1493
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Myoclonus, Seizure, Ataxia OMIM:619167
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Carnitine Palmitoyltransferase Ii Deficiency
Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Pachygyria ORPHA:157
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Chorea, Infantile spasms, Myoclonus, Action tremor, Impa... ORPHA:404454
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Seizure, Hemiparesis ORPHA:2481
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Myoclonus, Oculomotor apraxia, Bilateral tonic-clonic seizure, Ataxia ORPHA:247262
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, Myoclonus, Seizure OMIM:614946
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Neuroblastoma
Ataxia, Myoclonus, Irritability ORPHA:635
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Biliary tract abnormality OMIM:209900
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Seizure ORPHA:369847
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Thanatophoric Dysplasia
Gray matter heterotopia, Seizure ORPHA:2655
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Myoclonus, Clonus, Status epilepticus, Spastic tetraplegia OMIM:619055
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic an... OMIM:619573
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Self-injurious behavior, Myoclonic seizure OMIM:620469
Sialuria
Hyperkinetic movements, Attention deficit hyperactivity disorder, Memory impairment, Seizure ORPHA:3166
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Seizure, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Status ep... OMIM:301072
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Focal myoclonic seizure, Tetraparesis, Myoclonus, Paralysis, Genera... OMIM:203700
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Seizure, Anorexia, Myoclonus, Spastic hemiparesis, Ataxia ORPHA:20
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Splenomegaly, Cirr... ORPHA:355
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:881
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Seizure, Myoclonus, Short attention span, Hyperkinetic movements, Aggressive behavior, Hypertonia... ORPHA:17
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Spasticity, Seizure, Polymicrogyria, Periventricular heterotopia, Agenes... ORPHA:468631
Orofaciodigital Syndrome I
Hepatic fibrosis, Pancreatic cysts, Hepatic cysts OMIM:311200
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria OMIM:619775
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Spasticity, Seizure, Gait ataxia, Hyperkinetic movements, Babinski sign, Ataxia OMIM:620089
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Seizure, Bruxism, Irritability, Hyperkinetic movements, Aggressive behavior, Lower limb s... OMIM:617799
6Q Terminal Deletion Syndrome
Seizure, Polymicrogyria, Gait ataxia, Periventricular heterotopia, Dysmetria, Abnormality of neur... ORPHA:75857
Leukodystrophy, Hypomyelinating, 10
Hyperkinetic movements, Babinski sign, Spasticity, Seizure OMIM:616420
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms ORPHA:478029
Kinsship Syndrome
Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Spas... OMIM:619297
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Myoclonus, Intention tremor, Tremor, ... OMIM:208900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Pachygyria ORPHA:228308
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Co... OMIM:618918
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Leigh Syndrome
Spasticity, Involuntary movements, Seizure, Chorea, Infantile spasms, Upper motor neuron dysfunct... ORPHA:506
Pediatric-Onset Graves Disease
Polydipsia, Emotional lability, Tremor, Irritability, Hyperkinetic movements, Polyphagia, Hyperac... ORPHA:525731
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Coffin-Lowry Syndrome
Self-injurious behavior, Seizure, Abnormality of neuronal migration, Hypertonia, Progressive spas... ORPHA:192
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus, Seizure OMIM:246450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Polymicrogyria, Seizure, Agenesis of corpus callosum OMIM:608836
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Seizure ORPHA:531151
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Neuroblastoma, Susceptibility To, 1
Myoclonus, Ataxia OMIM:256700
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Seizure, Ataxia ORPHA:2318
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Bardet-Biedl Syndrome
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... ORPHA:110
Poliomyelitis
Fasciculations, Confusion, Irritability, Hyperkinetic movements, Paralysis, Paraparesis, Anorexia... ORPHA:2912
Miller-Dieker Lissencephaly Syndrome
Progressive spastic paraplegia, Seizure, Pachygyria, Epileptic spasm, Infantile spasms, Gray matt... OMIM:247200
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Spasticity, Infantile spasms OMIM:618797
Tick-Borne Encephalitis
Tongue fasciculations, Depression, Generalized-onset seizure, Incoordination, Speech apraxia, Tre... ORPHA:297
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Biliary cirrhosis, Cholestasis, Eleva... OMIM:619534
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Periventricular heterotopia, Bilateral tonic-clonic seizure, Agenesis of corpus... OMIM:618733
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... ORPHA:244
Autosomal Dominant Hypocalcemia
Cortical myoclonus, Depression, Emotional lability ORPHA:428
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Seizure, Myoclonus, Torticollis, Ataxia, Spastic tetraplegia OMIM:609136
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Splenomegaly OMIM:269860
Cerebrofacioarticular Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Dysplastic corpus callosum, Ataxia, Gray ma... ORPHA:314679
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Seizure, Polymicrogyria OMIM:614887
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Seizure, Hyperkinetic movements, Photosensitive tonic-clonic seizure, Ataxia, Truncal ataxia, Dys... OMIM:300243
Molybdenum Cofactor Deficiency, Type A
Seizure, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia OMIM:252150
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Opisthotonus, Pach... ORPHA:2671
Occipital Horn Syndrome
Cholestasis, Jaundice, Esophagitis, Hepatitis ORPHA:198
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Oculomotor apraxia, Seizure, Lissencephaly OMIM:617822
Pseudohypoparathyroidism Type 1C
Depression, Confusion, Irritability, Polyphagia, Myoclonic spasms, Hypocalcemic seizures ORPHA:79444
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:319213
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Hypertonia OMIM:618426
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia, Dysphagia, Seizure ORPHA:261250
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia, Lower limb spasticity, Seizure OMIM:620475
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Hepatic cysts ORPHA:79328
Pseudohypoparathyroidism Type 1A
Involuntary movements, Depression, Confusion, Irritability, Polyphagia, Myoclonic spasms, Hypocal... ORPHA:79443
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Myoclonus, Tetraplegia, Seizure, Irritability OMIM:618278
Listeriosis
Seizure, Myoclonus, Tremor, Hemiparesis, Irritability, Ataxia ORPHA:533
Scorpion Envenomation
Seizure, Hemifacial spasm, Myoclonus, Tremor, Hyperkinetic movements, Ataxia, Restlessness ORPHA:466677
Glycogen Storage Disease Ib
Recurrent bacterial infections, Splenomegaly, Neutropenia OMIM:232220
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Oculomotor apraxia, Ataxia OMIM:617563
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Seizure OMIM:219730
Chromomycosis
Recurrent bacterial infections ORPHA:182
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... ORPHA:470
Galloway-Mowat Syndrome 1
Spasticity, Seizure, Abnormality of neuronal migration, Ataxia, Pachygyria, Spastic tetraplegia OMIM:251300
Meckel Syndrome
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... ORPHA:564
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Dysphagia, Seizure ORPHA:26791
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Seizure ORPHA:1860
Bohring-Opitz Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:605039
Opitz-Kaveggia Syndrome
Spasticity, Seizure, Attention deficit hyperactivity disorder, Gray matter heterotopia, Partial a... OMIM:305450
Aicardi Syndrome
Lateral ventricle dilatation, Seizure, Polymicrogyria, Epileptic spasm, Infantile spasms, Pachygy... OMIM:304050
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Lathosterolosis
Myoclonus, Seizure ORPHA:46059
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Meningioma
Transient global amnesia, Memory impairment, Seizure, Hemifacial spasm, Abnormal central motor fu... ORPHA:2495
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Spasticity, Seizure, Polymicrogyria, Type II lissencephaly, Myoclonus, Pachygyria OMIM:253280
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Tremor, Seizure, Ataxia ORPHA:2754
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Seizure, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Simple febr... ORPHA:464311
Holoprosencephaly 14
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia, Bi... OMIM:619895
Developmental And Epileptic Encephalopathy 89
Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Hyperkinetic movements, Bilateral t... OMIM:619124
Peroxisome Biogenesis Disorder 1A (Zellweger)
Seizure, Polymicrogyria, Dysphagia, Gray matter heterotopia, Frequent falls OMIM:214100
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Focal motor seizure, Myoclonus, Generalized myoclonic seizure ORPHA:3063
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Koolen-De Vries Syndrome
Gray matter heterotopia, Impulsivity, Hyperactivity, Seizure OMIM:610443
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l... OMIM:243800
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Self-mutilation, Hyperkinetic movements, Motor stereotypy, Repetitive comp... ORPHA:522077
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Seizure, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, Ataxia, Truncal ataxia, Athetosis OMIM:615356
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Attention deficit hypera... OMIM:618820
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia, Chronic neutropenia ORPHA:79259
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Alström Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... ORPHA:64
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Holoprosencephaly
Spasticity, Seizure, Chorea, Abnormality of neuronal migration, Cognitive impairment ORPHA:2162
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Spasticity, Seizure, Fasciculations, Myoclonus, Hypertonia ORPHA:284339
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Lateral ventricle dilatation, Seizure, Polymicrogyria, Pachygyria, Ag... OMIM:210710
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Myo... ORPHA:438213
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Bruxism, Seizure ORPHA:453499
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Seizure, Type II lissencephaly, Agenesis of corpus callosum, Gray matter heterotopia OMIM:615287
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure, Bruxism, Agenesis of corpus callosum, Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure, Bruxism, Agenesis of corpus callosum, Gray matter heterotopia ORPHA:352665
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Seizure, Agenesis of corpus callosum OMIM:603671
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Mental deterioration, Attention deficit hyperactivity disorder ORPHA:647
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Polymicrogyria ORPHA:79500
Acrofacial Dysostosis, Cincinnati Type
Seizure, Abnormality of coordination, Infantile spasms, Myoclonus, Lower limb spasticity, Vocal c... OMIM:616462
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Aggressive ... ORPHA:353281
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, ... ORPHA:79318
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Abnormal lateral ventricle morp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Abnormal lateral ventricle morp... ORPHA:353277
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Smith-Lemli-Opitz Syndrome
Seizure, Periventricular heterotopia, Self-mutilation, Aggressive behavior, Colpocephaly, Hyperac... OMIM:270400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Orofaciodigital Syndrome Xiv
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia, P... OMIM:615948
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Agenesis of corpus callosum OMIM:236680
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Genitopatellar Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Colpocephaly, Pachygyria, Dysphagia OMIM:606170
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Lateral ventricle dilatation, Seizure, Polymicrogyria, Bruxism, Periventricular heter... ORPHA:261537
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Mowat-Wilson Syndrome
Spasticity, Seizure, Polymicrogyria, Bruxism, Periventricular heterotopia, Focal-onset seizure, A... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess ORPHA:642
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Lateral ventricle dilatation, Seizure, Polymicrogyria, Bruxism, Periventricular heter... ORPHA:261552
Proteus Syndrome
Gray matter heterotopia, Seizure ORPHA:744

Histopathology

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

There is no histopathology data for Plaur

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Plaurtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Plaurtm108321(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plaurem2(IMPC)H Indel Mice
Plaurem1(IMPC)H Indel Mice

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