Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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 Dorso Ventral

13 Images

Echo

M-Mode Images

36 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... OMIM:245480
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia, Decreased circul... OMIM:242870
Myelolymphatic Insufficiency
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper mo... ORPHA:401901
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Myoclonus-Dystonia Syndrome
Limb myoclonus, Torticollis, Myoclonus, Spinal myoclonus, Panic attack, Depression, Anxiety, Pers... ORPHA:36899
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... OMIM:162350
Dystonia 11, Myoclonic
Anxiety, Torticollis, Myoclonus, Tremor, Depression, Panic attack, Agoraphobia OMIM:159900
Creutzfeldt-Jakob Disease
Gait ataxia, Hemiparesis, Myoclonus, Apathy, Dementia, Depression, Anxiety, Irritability, Memory ... OMIM:123400
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re... OMIM:613500
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Rec... OMIM:613501
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Simplified gyral pattern, Myoclonus, Generalized myoclonic seizure, Status epileptic... OMIM:616540
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia OMIM:614379
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... OMIM:606843
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Generalized myoclonic seizure, Dementia, Ataxia OMIM:208700
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Jaundice, Emphysema, Hepatomegaly ORPHA:60
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Seizure, Motor deterioration, Clumsine... ORPHA:79262
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Recurrent otitis media,... OMIM:613502
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Polymyoclonus, Infantile
Myoclonus, Irritability, Ataxia OMIM:263550
Lissencephaly 3
Gray matter heterotopia, Generalized tonic seizure, Seizure, Spastic tetraplegia, Agyria, Lissenc... OMIM:611603
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract infections, R... OMIM:608106
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infec... OMIM:202700
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor ORPHA:308
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Seizure, Spastic tetraplegia, Agyria, Lissencephaly, Subcortical band he... OMIM:615411
Lissencephaly, X-Linked, 1
Spasticity, Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis... OMIM:300067
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Sub-Cortical Nodular Heterotopia
Spasticity, Subcortical heterotopia, Seizure, Abnormality of neuronal migration, Agenesis of corp... ORPHA:101029
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Aggressive behavior, Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Genera... OMIM:618357
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Dysmetria, Bilateral tonic-clonic seizure, Depression, Anxiety, Mental deterio... OMIM:619191
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Mental deterioration OMIM:616187
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... OMIM:619658
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... OMIM:614480
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Epileptic spasm, Generalized-onset seizure, Cogn... ORPHA:65683
Lissencephaly 1
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Spastic tetraparesis, Subcortical band h... OMIM:607432
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Spasticity, Seizure, Agyria, Pachygyria, Motor seizure, Infantile spasms ORPHA:1084
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev... OMIM:300310
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Lennox-Gastaut Syndrome
Aggressive behavior, Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myocl... ORPHA:2382
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dementia OMIM:125370
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Myoclonic Epilepsy Of Infancy
Poor hand-eye coordination, Febrile seizure (within the age range of 3 months to 6 years), Aggres... ORPHA:86909
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... OMIM:612692
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration ORPHA:2149
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Aggressive behavior, Generalized-onset seizure, Abnormality of neuronal ... OMIM:604317
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i... OMIM:612691
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... ORPHA:95434
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, BCGitis, Neutrophilia, Recurrent infection... OMIM:226990
Cd8 Deficiency, Familial
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections... OMIM:608957
Immunodeficiency 67
Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased... OMIM:607676
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Hemimegalencephaly
Gray matter heterotopia, Epileptic spasm, Seizure, Focal motor seizure, Hemiparesis, Myoclonus, F... ORPHA:99802
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Pancytopen... OMIM:616873
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Ir... OMIM:261630
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Glycine Encephalopathy
Aggressive behavior, Seizure, Myoclonus, Irritability, Agenesis of corpus callosum OMIM:605899
Epilepsy, Progressive Myoclonic, 8
Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Dementia, Bilateral tonic-clonic seizure... OMIM:616230
Chudley-Mccullough Syndrome
Gray matter heterotopia, Seizure, Partial agenesis of the corpus callosum, Dysplastic corpus call... OMIM:604213
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... OMIM:615400
Whim Syndrome 1
Decreased circulating antibody level, Recurrent bacterial infections, Recurrent upper respiratory... OMIM:193670
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Aggress... ORPHA:307
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Clumsiness, Myoclonus, Genera... ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure OMIM:612437
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Seizure, Self-injurious behavior, Myoclonus, Focal tonic seizure, Hypertonia... OMIM:300699
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive gait ataxia, Myoclonus, Emotional lability, Babinski sign, Spastic paraparesis, Upper... ORPHA:254343
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Dementia, Ataxia, Bilateral tonic-clonic seizure, Mental deterioration, Generalized no... OMIM:254800
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Spasticity, Aggressive behavior, Seizure, Lateral ventricle dilatation, F... OMIM:221770
Immunodeficiency 84
Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Sple... OMIM:619437
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Lymphoproliferative Syndrome, X-Linked, 2
Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the large intestine, Colitis, Hepatome... OMIM:300635
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune hemolytic anemia,... OMIM:608184
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Tetraparesis, Seizure, Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Viral hepatitis... ORPHA:139507
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Spastic tetraplegia, Lissencephaly, Periventricular... OMIM:618677
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Atonic s... OMIM:614018
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Continuous Spikes And Waves During Sleep
Aggressive behavior, Typical absence seizure, Seizure, Focal motor seizure, Cognitive impairment,... ORPHA:725
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Recurrent bacterial infections, Abnormal neutrophil count, Helicobact... ORPHA:2688
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ... ORPHA:314632
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Hand tremor, Myoclonus ORPHA:86814
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... OMIM:607317
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Anxiety OMIM:619651
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... OMIM:618587
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Periventricular Nodular Heterotopia 6
Focal motor seizure, Infantile spasms, Seizure, Periventricular nodular heterotopia OMIM:615544
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Symmetrical Thalamic Calcifications
Spasticity, Cognitive impairment, Seizure, Abnormality of neuronal migration, Ataxia, Hypertonia ORPHA:1314
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Chorea, Spasticity, Self-injurious behavior, Seizure, Myoclonus, Inappropriate... OMIM:614254
Epilepsy, Progressive Myoclonic, 11
Seizure, Rigidity, Myoclonus, Ataxia, Intention tremor OMIM:618876
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Seizure, Rigi... OMIM:612736
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Recurrent otitis media ORPHA:444463
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton... OMIM:616981
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Post-vaccination polio, Recurrent otitis media, Recurrent infections, Agammagl... OMIM:616941
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis, Mental det... OMIM:615924
Periventricular Nodular Heterotopia 8
Spasticity, Seizure, Periventricular nodular heterotopia OMIM:618185
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo... OMIM:608105
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Dravet Syndrome
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... ORPHA:33069
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Chorea, Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Infant... OMIM:616139
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent abscess formation, Hyposegmentation of neutrophil nuclei OMIM:260570
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... OMIM:605407
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Cirrhosis OMIM:271500
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Microcephaly 9, Primary, Autosomal Recessive
Simplified gyral pattern, Aggressive behavior, Seizure, Self-injurious behavior OMIM:614852
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:314250
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Psychomotor deter... OMIM:204200
Foxg1 Syndrome
Paroxysmal bursts of laughter, Spasticity, Cognitive impairment, Focal-onset seizure, Inappropria... ORPHA:561854
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Aggressive behavior, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Fr... OMIM:607136
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233710
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Seizure, Myoclonus, Ataxia, Pachygyria, Anxiety OMIM:620094
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Juvenile Huntington Disease
Gait ataxia, Chorea, Seizure, Rigidity, Myoclonus, Ataxia, Dementia, Depression, Progressive cere... ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Seizure, Myoclonus, Psychomotor deterioration, Ataxia, Depression, Irritability OMIM:256730
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Generalized myoclonic seizure, Myoclonus, Ataxia OMIM:545000
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Chilblains, Membranoproliferative glomerulonephritis, Hepatosplenomegaly, Intes... OMIM:619858
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Neutropenia, Infectious encephalitis, Recurrent urinary tract infection... OMIM:209920
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Cholestasis, Prolonged neo... OMIM:231100
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure OMIM:613608
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media OMIM:266265
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Combined Saposin Deficiency
Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations OMIM:611721
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:613313
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233690
Immunodeficiency 56
Hepatic failure, Cirrhosis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi... OMIM:615207
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Choreoathetosis, Status epilepticus, Bilateral tonic-clonic seizure, Irritability OMIM:609056
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Degeneration of anterior horn cells, Myoclonus, Generalized myoclonic ... OMIM:159950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Rigidity, Myoclonus, Apathy... OMIM:600795
Spinocerebellar Ataxia Type 14
Gait ataxia, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebell... ORPHA:98763
Epilepsy, Early-Onset, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Hype... OMIM:617290
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Spasticity, Generalized-onset seizure, Generalized tonic s... ORPHA:208447
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Choreoathetosis, Generalized myoclonic seizure, Ataxia, Dementia, Bilateral t... OMIM:301020
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Tegumentary leishmaniasis susceptibility,... ORPHA:319552
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Band Heterotopia
Spasticity, Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Subcortical band hete... OMIM:600348
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Seizure, Ataxia OMIM:600143
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positi... ORPHA:572
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Portal inflammation, Hepatic bridgin... OMIM:613759
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... OMIM:613721
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Aggressive behavior, Self-injurious behavior, Seizure, Bipolar affective disorder, Upper ... ORPHA:485350
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Seizure, Periventricular nodular heterotopia, Spastic paraplegia OMIM:618572
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, Sepsis, Severe varicella zoster infection, T lymphocytopenia, Monocytopenia, B lympho... OMIM:618986
Coach Syndrome 2
Hepatic fibrosis, Apneic episodes in infancy, Elevated hepatic transaminase, Portal fibrosis, Con... OMIM:619111
Peho-Like Syndrome
Myoclonus, Status epilepticus, Lissencephaly, Bilateral tonic-clonic seizure, Pachygyria, Polymic... OMIM:617507
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Seizure, Cognitive impairment, Lateral ventr... ORPHA:300573
Inherited Creutzfeldt-Jakob Disease
Babinski sign, Spastic hemiparesis, Bradykinesia, Gait ataxia, Apathy, Dementia, Slurred speech, ... ORPHA:282166
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Motor deterioration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Limb ... OMIM:256731
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Atonic... OMIM:616421
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hashimoto thyroidi... OMIM:618549
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Generalized-onset seizure, Cognitive impairment... ORPHA:79263
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:369
Spinocerebellar Ataxia 19
Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh... OMIM:607346
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Recurrent respiratory i... OMIM:615214
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Disseminated molluscum contag... OMIM:243700
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Hepatic fibrosis, Elevated circulating alanine aminotransferase concent... OMIM:278000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Chorea, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epilepticus wi... OMIM:619317
Huntington Disease
Hostility, Poor fine motor coordination, Chorea, Aggressive behavior, Seizure, Suicidal ideation,... ORPHA:399
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Reduced natural killer cell count, Recurrent bacterial skin i... ORPHA:276
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, Hemiparesis, Apraxia, Myoclonus, Choreoat... ORPHA:71277
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babinski sign OMIM:606777
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox... OMIM:606703
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence se... OMIM:300388
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Early Myoclonic Encephalopathy
Focal seizure with eyelid myoclonia, Focal motor seizure, Myoclonus, Focal tonic seizure, General... ORPHA:1935
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... ORPHA:352596
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls OMIM:619647
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Corticobasal Syndrome
Limb myoclonus, Parkinsonism, Limb apraxia, Myoclonus, Dementia, Tremor, Involuntary movements, P... ORPHA:454887
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormality of neuronal migration, Ataxia OMIM:618709
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Subependymal Nodular Heterotopia
Gray matter heterotopia, Limb myoclonus, Seizure, Abnormality of neuronal migration, Focal-onset ... ORPHA:101030
Maternal Hyperthermia-Induced Birth Defects
Cognitive impairment, Seizure, Abnormality of neuronal migration, Hypertonia ORPHA:2216
Benign Familial Neonatal Epilepsy
Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil... ORPHA:1949
Retinitis Pigmentosa 89
Hepatic fibrosis, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatosplenomegaly OMIM:618955
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Acute lymphoblastic leukemia OMIM:610738
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Truncal ataxia, Myoclonus, Ataxia, Dysmetria, Head titubation, Irritability, Agenesis of... OMIM:250620
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus, Depression, Anxiety OMIM:616398
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Anxiety, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure,... OMIM:619725
Alexander Disease
Spasticity, Seizure, Palatal tremor, Apathy, Ataxia, Babinski sign, Dysmetria OMIM:203450
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Cognitive impairment, Spastic gait, Parkinsonism, Myoclonus, Atax... ORPHA:306511
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Frequent falls, Clonus... OMIM:500003
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Seizure, Ataxia OMIM:204500
Developmental And Epileptic Encephalopathy 99
Perisylvian polymicrogyria, Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemi... OMIM:619606
Huntington Disease-Like 2
Chorea, Inertia, Rigidity, Apathy, Dementia, Action tremor, Depression, Anxiety, Subcortical deme... OMIM:606438
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... OMIM:601495
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Chronic lymphatic leukemia, Increased proportion of transitional B cells,... OMIM:616005
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Myoclonus, Status epilepticus, Spastic tetraplegia OMIM:618285
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... ORPHA:726
Phosphoserine Aminotransferase Deficiency
Myoclonus, Seizure, Hypertonia OMIM:610992
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Arthritis, Skin rash, Sinusitis, Cough,... ORPHA:33110
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Aggressive behavior, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, My... OMIM:137440
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Abnormality of extrapyramidal motor fu... ORPHA:204
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Dystonia 23
Torticollis, Head tremor, Myoclonus OMIM:614860
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Choreoathetosis, Spastic tetraparesis OMIM:617065
Pediatric Hepatocellular Carcinoma
Hepatic necrosis, Hepatic fibrosis, Portal vein thrombosis, Hepatomegaly ORPHA:33402
Developmental And Epileptic Encephalopathy 16
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus OMIM:615338
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hypersplenism, Jaundice, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepa... OMIM:619902
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Myoclonus, Choreoathetosis, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Memory impairment OMIM:620158
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Recurrent enteroviral infections, Decreased circulating total... ORPHA:331206
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Epileptic spasm OMIM:619971
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Seizure, Lateral ventricle dilatation, Simplified gyral pattern, Inappropriate crying, Myoclonus,... ORPHA:284417
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Myoclonus, Focal hemiclonic ... OMIM:620145
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxia, Myoclon... OMIM:614487
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Progressive neurologic deterioration, Myoclonus, Seizure OMIM:618251
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, Apraxia, Myoclonus, Dementia, Babinski sign, Memory impairment OMIM:618193
Gaucher Disease, Type Iii
Myoclonus, Generalized myoclonic seizure, Ataxia, Dementia, Spastic paraparesis, Progressive neur... OMIM:231000
Childhood-Onset Spasticity With Hyperglycinemia
Cognitive impairment, Spastic diplegia, Progressive spasticity, Spastic dysarthria, Myoclonus, At... ORPHA:401866
Caroli Disease
Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Seizure, Myoclonus, Ataxia, Depression, Anxiety, Memory impairment ORPHA:163921
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Hepatitis, Hepatosplenomegaly, Recurrent pneumonia, Otitis media, Eryth... ORPHA:169160
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Elevat... ORPHA:139402
Developmental And Epileptic Encephalopathy 92
Ataxia, Spasticity, Seizure, Myoclonus OMIM:617829
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase c... OMIM:214950
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Wilson Disease
Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Hepa... ORPHA:905
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity, Bilateral tonic-clonic seizure with ... OMIM:619028
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Inappropriate crying, Seizure, Self-injurious behavior ORPHA:397933
Pontocerebellar Hypoplasia Type 4
Myoclonus, Seizure, Hypertonia ORPHA:166063
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Thrombocytopenia, Impaired memory B cell generation, Splenomegaly, Sepsis, Decreased ... OMIM:308230
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Thyroiditis, Diffuse hepatic s... ORPHA:2137
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... OMIM:619484
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly ORPHA:466794
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements OMIM:618425
Melioidosis
Septic arthritis, Prostatitis, Hepatitis, Splenic abscess, Liver abscess, Cutaneous abscess, Foot... ORPHA:31202
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... OMIM:612016
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:306400
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... OMIM:607626
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Cognitive impairment, Torticollis, Myoclonus, Tremor OMIM:617284
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:101150
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Seizure, Hyperkinetic movements, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:13
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure OMIM:619065
Kufor-Rakeb Syndrome
Spasticity, Aggressive behavior, Seizure, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parki... OMIM:606693
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Myoclonus, Irritability, Limb hypertonia OMIM:607196
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Dementia, Bilateral tonic-clonic seizure,... OMIM:607876
Congenital Disorder Of Glycosylation, Type In
Spasticity, Seizure, Ataxia, Myoclonus OMIM:612015
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Seizure, Involuntary movements, Apraxia, Inappropriate c... ORPHA:3095
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating enzyme concentrati... ORPHA:79303
Brain Small Vessel Disease 2
Subcortical heterotopia, Spastic tetraplegia, Focal-onset seizure, Hemiplegia, Bilateral tonic-cl... OMIM:614483
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus call... ORPHA:250972
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Aggressive behavior, Seizure, Dysdiadochokinesis, Myoclonus, Ataxia, Babinski sign, Dysmetria, Hy... OMIM:618356
Bilateral Striopallidodentate Calcinosis
Seizure, Abnormality of neuronal migration ORPHA:1980
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, Spasticity, Aggressive behavior, Typical absence seizure, ... ORPHA:168491
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Recurrent pneumon... OMIM:618935
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Seizure, Dementia OMIM:604218
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Cognitive impairment, Seizure, Parkinsonism, Myoclonic spasms, Clum... ORPHA:79264
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Myoclonus, Seizure, Hypertonia OMIM:610090
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Cerebral Palsy, Spastic Quadriplegic, 3
Spasticity, Gray matter heterotopia, Abnormal pyramidal sign, Seizure, Spastic diplegia, Spastic ... OMIM:617008
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizure, Status epil... OMIM:271980
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blunting, Abnorma... ORPHA:275864
Thymic Aplasia
Opportunistic infection, T lymphocytopenia, Invasive fungal infection, Recurrent Staphylococcus a... ORPHA:83471
Narp Syndrome
Seizure, Myoclonic spasms, Progressive gait ataxia, Ataxia, Babinski sign, Dementia, Irritability ORPHA:644
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... ORPHA:352582
Lissencephaly 6 With Microcephaly
Spasticity, Periventricular heterotopia, Seizure, Limb hypertonia, Simplified gyral pattern, Liss... OMIM:616212
Avian Influenza
Conjunctivitis, Myelitis, Pneumothorax, Respiratory failure, Productive cough, Hepatitis, Elevate... ORPHA:454836
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Aspergillosis
Osteomyelitis, Bronchiectasis, Hepatitis, Asthma, Chronic pulmonary obstruction, Pleural effusion... ORPHA:1163
Developmental And Epileptic Encephalopathy 23
Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal impaired awarenes... OMIM:615859
Joubert Syndrome 9
Apnea, Hepatic fibrosis, Episodic tachypnea OMIM:612285
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Limb myoclonus, Cognitive impairment, Abnormality of extrapyramidal motor function, ... ORPHA:356
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Elevated hepatic transaminase, Pericarditis, Restrictive ventila... ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Rigidity, Myoclonus, Irritability, Athetosis OMIM:618241
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Hypertonia OMIM:225753
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
Hsd10 Disease
Seizure, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor ORPHA:391417
Abeta Amyloidosis, Iowa Type
Myoclonus, Memory impairment, Dementia ORPHA:324708
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Cognitive impairment, Seizure, Dysdiadochokinesis, Truncal ataxia, My... ORPHA:101
Bile Acid Malabsorption, Primary, 2
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Elevated circul... OMIM:619481
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr... ORPHA:158061
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Parkinsonism, Mot... ORPHA:412066
Beta-Thalassemia
Respiratory insufficiency, Hepatitis, Hepatomegaly, Cholelithiasis, Splenomegaly ORPHA:848
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Generalized-onset seizure, Aggressive behavior, Memory impairment, Self-i... OMIM:619827
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Recurrent viral infections, Recurrent bacterial infec... OMIM:618048
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Cutaneous abscess... OMIM:147060
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Periportal fibrosis, Elevated hepatic iron concentration, He... ORPHA:101330
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Progressive cerebellar ataxia ORPHA:139485
Mpi-Cdg
Hepatic fibrosis, Abnormal circulating enzyme concentration or activity, Hepatomegaly, Decreased ... ORPHA:79319
Alzheimer Disease 3
Seizure, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Dementia, Babinski sig... OMIM:607822
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Macro... ORPHA:209902
X-Linked Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Recurrent cutaneous abscess forma... ORPHA:47
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Seizure, Parkinsonism, Truncal ataxia, Rigidity, Myoclonu... OMIM:618877
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Seizure, Myoclonus, Statu... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Seizure, Lateral ventricle dilatation, Clumsiness, Paraparesis, Myoclonus, Ataxia, Lo... OMIM:617854
Interstitial Lung And Liver Disease
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Hepatic f... OMIM:615486
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria, Seizure ORPHA:352682
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hepatitis, Jaundice, Hepatocellu... ORPHA:186
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... ORPHA:39812
Developmental And Epileptic Encephalopathy 1
Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, Focal-onset seizure, Generalized... OMIM:308350
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... ORPHA:331235
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... OMIM:611182
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis, Tremor, Action tremor, Agenesis of corpus callosum OMIM:231950
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Chorea, Cerebral palsy, Myoclonus, Bilateral tonic-clonic seizure, Focal impai... OMIM:617600
Spinocerebellar Ataxia 13
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Myoclonus, Limb ataxia, L... OMIM:605259
Thyrocerebrorenal Syndrome
Myoclonus, Slurred speech, Seizure, Nonprogressive cerebellar ataxia ORPHA:3327
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Self-injurious behavior, Bilateral tonic-clonic seizure, Focal impaired aware... OMIM:617493
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated... ORPHA:64743
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopul... ORPHA:486
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Myoclonus, Generalized my... ORPHA:313772
Developmental And Epileptic Encephalopathy 49
Spasticity, Seizure, Myoclonus OMIM:617281
Hemochromatosis Type 2
Elevated hepatic transaminase, Abnormality of endocrine pancreas physiology, Congenital hepatic f... ORPHA:79230
Lafora Disease
Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Spasticity, Seizure, Focal-on... ORPHA:501
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Hepatitis, Jaundice, Hepatomegaly, Cholelithiasis OMIM:194380
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Leukopenia, Anemia, Recurrent bacterial skin infections, ... OMIM:214500
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Gait ataxia, Focal-onset seizure, Myoclonus, Ataxia, Tremor, Hypertonia, Bilat... OMIM:619092
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Babinski sign, Spastic tet... ORPHA:225154
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... OMIM:613179
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pneumonia, Recurre... OMIM:617475
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic ataxia, Seizure, Spastic tetraplegia, Cognitive impairment, Myoclonus, Genera... OMIM:616640
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... ORPHA:99
Spinocerebellar Ataxia 2
Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apraxia, Rigidity, Myoc... OMIM:183090
Hyperekplexia 4
Myoclonus, Seizure, Hypertonia OMIM:618011
Caroli Syndrome
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangi... ORPHA:480520
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Cognitive impairment, Seizure, Truncal ataxia, Myoclonus, Ataxia, Babinski sign OMIM:252011
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Spastic tetraplegia, Eyelid myoclonus, Ataxia, Tonic seizure, Bilateral tonic-... OMIM:619913
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Progressive neurologic deterioration... OMIM:233910
Familial Dyskinesia And Facial Myokymia
Chorea, Myoclonus, Limb hypertonia, Resting tremor ORPHA:324588
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Seizure, Abnormality of neuronal migration, Tremor, Depression, Anxiety, Hyperkinetic... OMIM:300957
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Ch├ędiak-Higashi Syndrome
Hepatosplenomegaly, Recurrent staphylococcal infections, Thrombocytopenia, Abnormal leukocyte mor... ORPHA:167
Trichohepatoenteric Syndrome 2
Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis OMIM:614602
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Limb myoclonus, Postural tremor, Torticollis, Limb ataxia, Bradykinesia OMIM:619862
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Abnormality of neuronal mig... ORPHA:163681
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Seizure, Spastic tetra... OMIM:619847
Transaldolase Deficiency
Hepatic fibrosis, Cirrhosis, Asthma, Hepatosplenomegaly, Micronodular cirrhosis, Hepatomegaly, De... OMIM:606003
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Myoclonus, Seizure, Polymicrogyria OMIM:300673
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... OMIM:116920
Early-Onset Autosomal Dominant Alzheimer Disease
Seizure, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia, Dementia, Semantic dementi... ORPHA:1020
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Agenesis of corpus callosum OMIM:312170
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Severe varicella zoster infection, Hemolytic anemia, T lymphocytopenia, ... OMIM:606367
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast cells ORPHA:98848
Leukodystrophy, Hypomyelinating, 11
Ataxia, Spasticity, Tremor, Myoclonus OMIM:616494
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Recurrent viral infections, Severe B lymphoc... OMIM:603554
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Appendicular spasticity, Simplified gyral pattern, Myoclonus, Epileptic spasm, Agenesis ... OMIM:617669
Pontocerebellar Hypoplasia, Type 2E
Myoclonic seizure, Spasticity, Spastic tetraplegia, Myoclonus, Tonic seizure, Hypertonia, Infanti... OMIM:615851
Primary Sclerosing Cholangitis
Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Elevated hepatic trans... ORPHA:171
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Seizure, Resting tremor, Rigidity, Myoclonus, Involuntary m... ORPHA:391411
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonic seizure, Spasticity, Seizure, Myoclonus, Ataxia OMIM:618225
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Allergic rhinitis, Rheumatoid arthritis, Skin rash, Arthritis, Liver abscess, Ast... ORPHA:183675
Parkinson Disease 14, Autosomal Recessive
Spasticity, Aggressive behavior, Ankle clonus, Frontotemporal dementia, Resting tremor, Parkinson... OMIM:612953
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Splenomegaly OMIM:615630
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Torticollis, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Lichen Planopilaris
Hepatitis ORPHA:525
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, Limb hypertonia, Rigidity, Myoclonus, Status epilepticus, Ataxia, Tremor, In... ORPHA:442835
Legionnaires Disease
Endocarditis, Respiratory insufficiency, Splenomegaly, Hepatitis, Jaundice, Pericarditis, Restric... ORPHA:549
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... ORPHA:397946
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Splenomegaly OMIM:616589
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome, Recurrent urinary tract infection... OMIM:307200
Riboflavin Transporter Deficiency
Aggressive behavior, Seizure, Myoclonus, Ataxia, Tremor ORPHA:97229
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Athetosis, Clonic seizure OMIM:617235
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Necrotizing enterocolitis, Hepatic steatosis, Hepat... OMIM:201475
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Aggressive behavior, Anxiety, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, De... OMIM:619738
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Seizure, Ataxia OMIM:274240
Stiff-Person Syndrome
Exaggerated startle response, Myoclonic spasms, Rigidity, Frequent falls, Depression, Anxiety, Ag... OMIM:184850
Pandas
Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Clumsiness, Emotional labi... ORPHA:66624
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Adenylosuccinase Deficiency
Gait ataxia, Spasticity, Aggressive behavior, Seizure, Myoclonus, Happy demeanor, Hemiplegia, Ina... OMIM:103050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Partial agenesis of the corpus callosum, Seizure, Periventricular heter... OMIM:616171
Q Fever
Endocarditis, Myocarditis, Maculopapular exanthema, Osteomyelitis, Abnormality of the liver, Hepa... ORPHA:781
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... ORPHA:541423
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... ORPHA:30391
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Seizure, Eyelid myoclonus, Oculomotor apraxia, Borderline personality di... OMIM:618060
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... ORPHA:79095
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:614921
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Seizure, Abnormal aggressive, impuls... ORPHA:3077
Lissencephaly 5
Gray matter heterotopia, Seizure, Spastic paraplegia, Type II lissencephaly, Subcortical band het... OMIM:615191
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Spinocerebellar Ataxia Type 36
Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ... ORPHA:276198
Ataxia-Telangiectasia-Like Disorder
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Dysmetria, Freque... ORPHA:251347
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... OMIM:615415
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Abnormal er... ORPHA:370
Early-Onset Lafora Body Disease
Seizure, Myoclonus, Ataxia, Spastic tetraparesis, Mental deterioration ORPHA:324290
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Hepatic fibrosis, Elevated hepatic transaminase, Eczema, Inflammation of the large... OMIM:615895
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... OMIM:208540
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Cryoglobulinemic Vasculitis
Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Hepatomegaly, S... ORPHA:91138
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Multifocal seizures, Focal-onset seizure, Myoclonic spasms, Rigidity, Generalize... OMIM:614498
Pgm3-Cdg
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity, Eo... ORPHA:443811
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Chronic mucocutaneous candidiasis, Chronic ... OMIM:269200
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Skin rash, Respiratory distress, Pleural effusion, Cholestasis, Infec... ORPHA:292
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Focal-onset seizure, Myoclonus, Paralysis, Status epilepticus, Depress... ORPHA:83601
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Cholestatic liver di... OMIM:613404
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Osteomyelitis, Hepatitis, Skin rash, Fasciitis, Arthritis, Periton... ORPHA:36234
Baker-Gordon Syndrome
Self-injurious behavior, Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic movements, ... OMIM:618218
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatic fibrosis, Hepatomegaly, Cirrhosis OMIM:602579
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hepatomegaly OMIM:238970
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Myoclonus, Status epilepticus, Clonus OMIM:618201
Schindler Disease, Type I
Spasticity, Seizure, Myoclonus OMIM:609241
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Recurrent bacterial infections, Leukocytosis, Extramedullary hematopo... OMIM:612840
Combined Immunodeficiency Due To Crac Channel Dysfunction