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
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst OMIM:619549
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Depression, Compulsive behaviors, Myoclonus, Limb myoclonus ORPHA:36899
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Dementia, Abnormality of extrapyramidal motor function, Depression, Seizure, Bilateral tonic-clon... OMIM:162350
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunc... ORPHA:401901
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Frequent falls, Bilateral tonic-clonic seizure, Gait ataxia, Actio... OMIM:616540
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Dystonia 11, Myoclonic
Torticollis, Depression, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus OMIM:159900
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Dementia, Abnormality of extrapyramidal motor function, Depre... OMIM:615362
Creutzfeldt-Jakob Disease
Irritability, Dementia, Memory impairment, Depression, Extrapyramidal muscular rigidity, Confusio... OMIM:123400
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Dementia, Abnormality of extrapyramidal motor function, Depression, Bilatera... OMIM:204300
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Myoclonus, Ataxia, Dementia OMIM:208700
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Adult Neuronal Ceroid Lipofuscinosis
Dementia, Abnormality of extrapyramidal motor function, Mental deterioration, Seizure, Tremor, Sp... ORPHA:79262
Lissencephaly 3
Generalized tonic seizure, Polymicrogyria, Seizure, Agyria, Gray matter heterotopia, Bilateral to... OMIM:611603
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Isolated Focal Cortical Dysplasia
Epileptic spasm, Abnormal cortical gyration, Focal-onset seizure, Nocturnal seizures, Seizure, In... ORPHA:65683
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Dementia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Irritability, Generalized myoclonic seizure, Photosensit... ORPHA:86909
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Seizure, Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly... OMIM:615411
Lissencephaly, X-Linked, 1
Seizure, Agyria, Spasticity, Gray matter heterotopia, Ataxia, Pachygyria, Agenesis of corpus call... OMIM:300067
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Seizure, Spasticity, Abnormality of neuronal migration, Subcortical heterotopia, ... ORPHA:101029
Glycine Encephalopathy 1
Irritability, Hyperactivity, Seizure, Impulsivity, Agenesis of corpus callosum, Myoclonus, Restle... OMIM:605899
Epilepsy, Progressive Myoclonic, 12
Depression, Mental deterioration, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention de... OMIM:619191
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus, Mental deterioration OMIM:616187
Polymicrogyria, Bilateral Temporooccipital
Polymicrogyria, Bilateral tonic-clonic seizure with focal onset, Delirium, Status epilepticus, Fo... OMIM:612691
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic stea... OMIM:614480
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Lissencephaly 1
Seizure, Agyria, Spastic tetraparesis, Gray matter heterotopia, Pachygyria, Subcortical band hete... OMIM:607432
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Spasticity, Seizure, Agyria, Gray matter heterotopia, Infantile spasms, Pachygyria, Motor seizure ORPHA:1084
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Hyperactivity, Bilateral tonic-... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Hyperactivity, Polymicrogyria, Seizure, Generalized-onset seizure, Spastic tetrapares... OMIM:604317
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Dentatorubral-Pallidoluysian Atrophy
Dementia, Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration ORPHA:2149
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Seizure, Tremor, Dysphagia, Progressive neurologic deterioration, Myocl... OMIM:261630
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Inappropriate behavior, Babinski sign, Apraxia, Memory impairment, Abnormal upper motor neuron mo... OMIM:221770
Microcephaly 9, Primary, Autosomal Recessive
Seizure, Compulsive behaviors, Impulsivity, Simplified gyral pattern, Motor tics, Self-injurious ... OMIM:614852
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Seizure, Tremor, Spasticity, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetrapare... OMIM:615924
Hemimegalencephaly
Epileptic spasm, Polymicrogyria, Focal motor seizure, Seizure, Focal tonic seizure, Gray matter h... ORPHA:99802
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Immunodeficiency 32B
BCGitis, Anemia, Recurrent infections, Monocytopenia, Abnormal circulating IgG level, Neutrophili... OMIM:226990
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Myoclonus OMIM:102300
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Dementia, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Progress... OMIM:616230
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, 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, Ataxia, Motor stereotypy, Attention deficit hyperacti... OMIM:618709
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Seizure, Gray matter heterotopia, Partial agenesis of... OMIM:604213
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Microlissencephaly
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Polymicrogyria, Subcortical he... ORPHA:1083
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Immunodeficiency 84
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... OMIM:619437
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz... ORPHA:306
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Hyperkinetic movements, Focal motor seizure, Seizur... ORPHA:725
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Emotional lability, Frequent falls, Lower limb hype... ORPHA:254343
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Demen... OMIM:254800
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomegaly, Acne, Erythema nod... OMIM:300635
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypertonia, Periventricular ribbonlike heterotopia, Infantile spasms, Generalized-onset seizure, ... OMIM:618677
Periventricular Nodular Heterotopia 6
Seizure, Periventricular nodular heterotopia, Infantile spasms, Focal motor seizure OMIM:615544
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia... ORPHA:2688
Foxg1 Syndrome
Focal-onset seizure, Hyperkinetic movements, Bruxism, Spasticity, Infantile spasms, Bilateral ton... ORPHA:561854
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Dementia, Tongue fasciculations, Tremor, Generalized-onset seizure... OMIM:159950
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Memory impairment, Tremor,... OMIM:614018
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Seizure, Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia OMIM:608097
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Impulsivity, Cognitive impairm... ORPHA:33069
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Short atten... OMIM:619028
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Bronchiec... ORPHA:60
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Dementia, Depression, Chorea, Seizure, Confusion, Gait ataxia... OMIM:607136
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Absence seizure with eyelid myoclonia, Tremor, Truncal ataxia, Bilateral tonic-clonic sei... OMIM:618587
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Bruxism, Polymicrogyria, Chorea, Seizure, Spasticity, St... OMIM:614254
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Seizure, Tremor, Spasticity, Frequent falls, Gait ata... OMIM:607317
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl... OMIM:616941
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Epilepsy, Progressive Myoclonic, 11
Seizure, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia, Spasticity 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, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Bilateral tonic-clonic seizure, Focal hemiclonic seiz... OMIM:616981
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Symmetrical Thalamic Calcifications
Hypertonia, Seizure, Spasticity, Cognitive impairment, Abnormality of neuronal migration, Ataxia ORPHA:1314
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Seizure, Focal tonic seizure, Limb tremor, Myoclonus, Self-injurious behavior, Aggres... OMIM:300699
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Focal-onset seizure, Oromotor apraxia, Polymicrogyria, Seizure, Gray ma... ORPHA:300573
Glut1 Deficiency Syndrome 1
Babinski sign, Seizure, Spasticity, Confusion, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoa... OMIM:606777
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, M... OMIM:616139
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myoclonic seizure, Progres... ORPHA:263516
Huntington Disease
Chorea, Choking episodes, Rigidity, Myoclonus, Clumsiness, Bradyphrenia, Aggressive behavior, Bab... ORPHA:399
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Seizure, Spasticity, Bilateral tonic-clonic ... ORPHA:208441
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Dementia, Depression, Chorea, Seizure,... ORPHA:248111
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Myoclonus OMIM:619651
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Immunodeficiency 108 With Autoinflammation
Recurrent abscess formation, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis OMIM:271500
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Bronchiolitis, Recurrent otitis media OMIM:266265
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, ... OMIM:608105
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly ORPHA:444463
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Cogni... OMIM:607346
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Complete or near-complete absence of specific ... OMIM:607676
Maternal Hyperthermia-Induced Birth Defects
Seizure, Abnormality of neuronal migration, Hypertonia, Cognitive impairment ORPHA:2216
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia OMIM:300299
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus OMIM:314250
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Seizure, Spasticity, Confusion, Hemiparesis, Ataxia, Extrapyramidal ... ORPHA:71277
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Chorea, Incoordination, Poor motor coordination, Frequent falls, Clonus, Paroxysma... OMIM:500003
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Cognitive impairment, Atypical absence seizure, P... OMIM:300388
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Early Myoclonic Encephalopathy
Generalized myoclonic seizure, Focal seizure with eyelid myoclonia, Infantile spasms, Focal motor... ORPHA:1935
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i... OMIM:209920
Salt And Pepper Developmental Regression Syndrome
Irritability, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus, Choreoathetosis OMIM:609056
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Frontotemporal dementia, Memory impairment, Rigidity, Disi... OMIM:600795
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Hyperkinetic movem... OMIM:619317
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Infantile Neuronal Ceroid Lipofuscinosis
Dementia, Chorea, Seizure, Tremor, Spasticity, Poor fine motor coordination, Generalized-onset se... ORPHA:79263
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Erratic myoclonus, Seizure, Attention deficit hyperactivity disorder, Ataxia, My... OMIM:619971
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Chilblains, Hepatosplenomegaly, Membranoproli... OMIM:619858
Combined Saposin Deficiency
Babinski sign, Generalized clonic seizure, Hyperkinetic movements, Fasciculations, Myoclonus OMIM:611721
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Bruxism, Seizure, Bilateral tonic-clonic seizure, Tonic ... OMIM:618497
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepatic fibrosis, H... OMIM:231100
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Seizure, Spasticity, Ataxia, Myoclonus OMIM:545000
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent sinusitis, Recurrent pn... OMIM:615207
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613313
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Dementia, Seizure, Bilateral tonic-clonic seizure, Frequent falls,... OMIM:301020
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Memory impairment, Progressive extrapyramidal muscular rigid... ORPHA:240103
Band Heterotopia
Polymicrogyria, Seizure, Spasticity, Gray matter heterotopia, Agenesis of corpus callosum, Latera... OMIM:600348
Ceroid Lipofuscinosis, Neuronal, 1
Irritability, Depression, Seizure, Spasticity, Ataxia, Myoclonus, Psychomotor deterioration OMIM:256730
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Spastic paraplegia, Seizure, Periventricular nodular heterotopia OMIM:618572
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Cognitive impairment, Rigidity, ... ORPHA:98763
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Depression, Agyria, Generalized-onset seizu... OMIM:618873
Peho-Like Syndrome
Polymicrogyria, Bilateral tonic-clonic seizure, Pachygyria, Myoclonus, Lissencephaly, Status epil... OMIM:617507
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ... OMIM:618986
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, T lymphocytopenia, Neutrope... ORPHA:572
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, De... ORPHA:485350
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, ... OMIM:620145
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus OMIM:600143
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, Memory impairment, Dementia, Seizure, Disinhibition, Myoclonus OMIM:618193
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal tonic seizure, Clonus, Statu... ORPHA:1949
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Persistent EBV... 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
Bradykinesia, Hypertonia, Hyperkinetic movements, Agitation, Abnormality of extrapyramidal motor ... ORPHA:13
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Motor deterioration, Limb tremor, Ataxia, Myoclonus, Clumsiness, Dys... OMIM:256731
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Recurrent opportunistic infectio... ORPHA:276
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Abnor... ORPHA:319552
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Reduced lysosomal acid lipase ... OMIM:278000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Bilateral tonic-clonic seizure, Intenti... OMIM:619725
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni... OMIM:614487
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus OMIM:619647
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Complete or near-complete absence of specific antibody response... OMIM:613496
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Hemiparesis, Myoclon... ORPHA:352596
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Irritability, Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myocl... OMIM:617290
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG... ORPHA:275
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased... ORPHA:98813
Cerebral Palsy, Spastic Quadriplegic, 3
Spasticity, Seizure, Gray matter heterotopia, Cognitive impairment, Dysphagia, Abnormal pyramidal... OMIM:617008
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Dementia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Status epilepticus, Hyperkinetic movements, Myoclonus OMIM:618285
Subependymal Nodular Heterotopia
Focal-onset seizure, Polymicrogyria, Seizure, Focal aware seizure, Gray matter heterotopia, Abnor... ORPHA:101030
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Status epilepticus, Clonic ... OMIM:615338
Hsd10 Disease
Seizure, Tremor, Short attention span, Rigidity, Ataxia, Dysphagia, Myoclonus, Spastic paraparesi... ORPHA:391417
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, ... OMIM:204200
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls OMIM:616921
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Irritability, Truncal ataxia, Seizure, Head titubation, Ataxia, Agenesis of corpus callosum, Myoc... OMIM:250620
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Progressive extrapyramidal muscular rigidity, Chorea, Progressive forgetfuln... ORPHA:282166
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Cognitive impairment, Ataxia, Parkinsonism, Myoclonus, Progr... ORPHA:306511
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Agitation, Oculomotor apraxia, Apraxia, Memory impairment, Dementia, Seizure, Confusi... ORPHA:1020
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Abeta Amyloidosis, Iowa Type
Memory impairment, Dysphagia, Dementia, Myoclonus ORPHA:324708
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus OMIM:204500
Childhood-Onset Spasticity With Hyperglycinemia
Babinski sign, Hypertonia, Irritability, Spastic dysarthria, Progressive spasticity, Short attent... ORPHA:401866
Dystonia 23
Myoclonus, Torticollis, Head tremor OMIM:614860
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatocellular carc... OMIM:619902
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Conge... OMIM:619111
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Developmental And Epileptic Encephalopathy 40
Seizure, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis OMIM:617065
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Memory impairment, Depression, Truncal ataxia, Spasticity, Tr... OMIM:137440
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced ... OMIM:232400
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Seizure, Periventricular nodular heterotopia, Motor ste... OMIM:620065
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Bilateral tonic-clonic sei... ORPHA:254881
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Caribbean Parkinsonism
Bradykinesia, Apraxia, Dementia, Frontal lobe dementia, Action tremor, Rigidity, Parkinsonism, My... ORPHA:97355
Spinocerebellar Ataxia 50
Apraxia, Memory impairment, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Mitochondrial Complex I Deficiency, Nuclear Type 31
Progressive neurologic deterioration, Seizure, Dysmetria, Myoclonus OMIM:618251
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Generalized myoclonic seizure, Focal-onset seizure, Typical absence s... ORPHA:168491
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Seizure, Spasticity, Dysphagia, Myoclonus OMIM:225753
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Re... OMIM:612783
Alzheimer Disease 3
Babinski sign, Apraxia, Optic ataxia, Abnormality of extrapyramidal motor function, Memory impair... OMIM:607822
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Developmental And Epileptic Encephalopathy 92
Seizure, Ataxia, Spasticity, Myoclonus OMIM:617829
Developmental And Epileptic Encephalopathy 31B
Irritability, Appendicular spasticity, Seizure, Infantile spasms, Involuntary movements, Clonus, ... OMIM:620352
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly ORPHA:466794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Lower limb spasticity, Hyperactivity, Low frustrat... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Lower limb spasticity, Oromotor apraxia, Seizure, Spasticity, Short attention span,... OMIM:617854
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Splenome... OMIM:308230
Posttransplant Acute Limbic Encephalitis
Memory impairment, Depression, Seizure, Confusion, Cognitive impairment, Ataxia, Myoclonus ORPHA:163921
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Atypical Rett Syndrome
Pill-rolling tremor, Generalized myoclonic seizure, Agitation, Neonatal seizure, Restrictive beha... ORPHA:3095
Dystonia 26, Myoclonic
Depression, Blepharospasm, Torticollis, Myoclonus OMIM:616398
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Dementia, Depression, Ataxia, Progressive neurologic deterioration... OMIM:231000
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Prolonged neona... OMIM:619481
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:306400
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Seizure, Infantile spasms, Bilateral tonic-clonic sei... ORPHA:250972
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Seizure, Spasticity, Ataxia, Pachygyria, Myoclonus OMIM:620094
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Dementia, Seizure, Parkinsonism with favora... OMIM:606693
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Melioidosis
Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Splenic abscess, Paro... ORPHA:31202
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Recurrent pneumonia, Hepatosplenomegaly, Otitis media, Pn... ORPHA:169160
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Dementia, Memory impairment, Abnormality of extrapyramidal motor function, Spastic... ORPHA:204
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Irritability, Abnormality of extrapyramidal motor function, Gait ata... ORPHA:101150
Dystonia 28, Childhood-Onset
Torticollis, Retrocollis, Spasticity, Tremor, Cognitive impairment, Myoclonus OMIM:617284
Microcephaly, Amish Type
Irritability, Partial agenesis of the corpus callosum, Limb hypertonia, Myoclonus OMIM:607196
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level,... OMIM:243700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Genera... OMIM:612016
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Chorea, Recurrent hand flapping, Cerebral... OMIM:617600
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Pus... ORPHA:139402
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Seizure, Gen... OMIM:619827
Narp Syndrome
Babinski sign, Irritability, Dementia, Seizure, Myoclonic spasms, Ataxia, Progressive gait ataxia ORPHA:644
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Congenital Disorder Of Glycosylation, Type In
Seizure, Ataxia, Spasticity, Myoclonus OMIM:612015
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Seizure, Poor fine motor coordination, Poor motor coordination, B... ORPHA:79264
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Hyperactivity, Seizure, Tremor, Spasticity, Poor motor coo... ORPHA:363400
Brain Small Vessel Disease 2
Focal-onset seizure, Polymicrogyria, Bilateral tonic-clonic seizure, Subcortical heterotopia, Spa... OMIM:614483
Developmental And Epileptic Encephalopathy 1
Hypertonia, Focal-onset seizure, Generalized myoclonic seizure, Erratic myoclonus, Focal motor se... OMIM:308350
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Hypertonia, Seizure, Spastic tetraparesis, Simplified gyral pattern, Lateral ven... ORPHA:284417
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610090
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Onychomycosis, Granuloma, Recurren... OMIM:618935
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Stereotypical h... ORPHA:289266
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Cognitive impairment, Ataxia, My... OMIM:607876
Bilateral Striopallidodentate Calcinosis
Seizure, Abnormality of neuronal migration ORPHA:1980
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Resting tremor, Hy... ORPHA:3077
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Hyperactivity, Bilate... OMIM:619913
Mitochondrial Complex I Deficiency, Nuclear Type 19
Irritability, Seizure, Athetosis, Rigidity, Myoclonus OMIM:618241
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Tremor, G... OMIM:619092
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Seizure, Dementia, Myoclonus OMIM:604218
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Fasciculations, Tongue fasciculations, Truncal ataxia, Head tremor, I... ORPHA:276198
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee... ORPHA:225154
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis, Tubulointerstitial nephritis OMIM:616629
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal... OMIM:615859
Lissencephaly 6 With Microcephaly
Limb hypertonia, Polymicrogyria, Microlissencephaly, Seizure, Spasticity, Simplified gyral patter... OMIM:616212
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokin... ORPHA:313772
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Myoclonus, Status epi... OMIM:610539
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Impaired oral bolus formation, Dysphagia, Myoclonus, Clonic seizure OMIM:617235
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Dysphagia, Limb myoclonus, Postural tremor OMIM:619862
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Dyssynergia, Dementia, Memory impairment, Truncal ata... ORPHA:101
Gerstmann-Straussler-Scheinker Syndrome
Abnormality of extrapyramidal motor function, Cognitive impairment, Gait ataxia, Dementia, Limb m... ORPHA:356
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Non-Specific Early-Onset Epileptic Encephalopathy
Limb hypertonia, Seizure, Tremor, Spasticity, Impulsivity, Involuntary movements, Rigidity, Abnor... ORPHA:442835
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Frontotemporal dementia, Fasciculations, Disinhibition, Dysphagia, Abnormal lower motor neuron mo... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Frontotemporal dementia, Fasciculations, Disinhibition, Dysphagia, Abnormal lower motor neuron mo... OMIM:616437
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Seizure, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc... OMIM:618048
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Myoclonus,... OMIM:606703
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Po... ORPHA:79319
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Polymicrogyria, Truncal ataxia, Seizure, Tremor, Spastic... OMIM:618877
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating alanine aminotransferase concentrati... ORPHA:158061
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Deme... OMIM:183090
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, H... OMIM:271980
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Seizure, Spasticity, Cerebral palsy, Clonus, Febrile seizure (within t... OMIM:619847
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Conjunctivitis, Recur... ORPHA:47
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Epileptic spasm, Appendicular spasticity, Seizure, Simplified gyral pattern, Agenesis of corpus c... OMIM:617669
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Seizure, Gray matter heterotopia ORPHA:352682
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Hyperekplexia 4
Seizure, Hypertonia, Infantile spasms, Myoclonus OMIM:618011
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Beta-Thalassemia
Hepatomegaly, Hepatitis, Splenomegaly, Cholelithiasis ORPHA:848
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, He... ORPHA:294
Alexander Disease
Babinski sign, Seizure, Spasticity, Ataxia, Dysmetria, Palatal tremor OMIM:203450
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur... ORPHA:331235
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent ear infections, Acute lymphoblastic leukemia, ... ORPHA:486
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan... OMIM:613470
Spinocerebellar Ataxia 13
Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Gait ataxia, Cognitive im... OMIM:605259
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Specific Granule Deficiency 2
Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil ... OMIM:617475
Glutathionuria
Dysdiadochokinesis, Tremor, Gray matter heterotopia, Action tremor, Agenesis of corpus callosum OMIM:231950
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Infantile spasms, Bilateral tonic-clonic s... OMIM:617493
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Recurrent infections, Recurrent systemic pyogenic infections, Recurrent... OMIM:214500
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Limb hypertonia, Myoclonus ORPHA:324588
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis, Frontotemporal dementia OMIM:619141
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Seizure, Dysdiadochokinesis, Intention tremor, Ataxia, Myoclonus, Dysm... OMIM:618356
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Seizure, Slurred speech, Myoclonus ORPHA:3327
Epilepsy, Progressive Myoclonic, 10
Generalized myoclonic seizure, Progressive cerebellar ataxia, Dementia, Seizure, Spasticity, Cogn... OMIM:616640
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Fasciculations, Spasticity, Cognitive impairment, Abnormal pyramidal sign, Abnorma... OMIM:602099
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple... ORPHA:171
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Babinski sign, Truncal ataxia, Seizure, Spasticity, Cognitive impairment, Ataxia, Myoclonus OMIM:252011
Early-Onset Lafora Body Disease
Confusion, Seizure, Spastic tetraparesis, Ataxia, Myoclonus, Mental deterioration ORPHA:324290
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Polymicrogyria, Seizure, Myoclonus, Rigidity OMIM:300673
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis ORPHA:98848
Trichohepatoenteric Syndrome 2
Chronic hepatitis, Cirrhosis, Hepatomegaly, Colitis OMIM:614602
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Dysphagia, Myoclonus, Abnormal pyramidal sign, Dysmetria, Mental deteriora... OMIM:619780
Leukocyte Adhesion Deficiency, Type I
Elevated circulating C-reactive protein concentration, Recurrent infections, Rectal abscess, Chro... OMIM:116920
Ch├ędiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormal platelet function, Hypoproteinemia, Recurrent bacterial s... ORPHA:167
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Progressive cerebellar ataxia, Frontotemporal dementia, Apraxia, Fasciculations, A... ORPHA:275872
Nipah Virus Disease
Anorexia, Seizure, Tremor, Myoclonus ORPHA:99825
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Panhypogammaglobulinemia, Recurrent urinary tract infections, M... OMIM:307200
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Elevated circulating aspartate aminotransferase con... OMIM:620454
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Mental deterioration, Spasticity, Tremor, Frequent fa... OMIM:611302
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Tremor, Episodic ataxia, Agenesis of corpus callosum, Myoclonus, Choreoathetosis OMIM:312170
Pontocerebellar Hypoplasia, Type 2E
Irritability, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Infa... OMIM:615851
Alexander Disease Type I
Seizure, Spasticity, Ataxia, Dysphagia, Abnormal pyramidal sign, Palatal tremor ORPHA:363717
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Atonic seizure, Motor stereotypy, Myoc... ORPHA:411986
Adams-Oliver Syndrome 6
Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, R... OMIM:603554
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Lower limb spasticity, Fasciculations, Depression, Spasticity, Amyotrophic lateral... OMIM:613954
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Esophagitis, Hepatosplenome... ORPHA:541423
Lichen Planopilaris
Hepatitis ORPHA:525
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:615630
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Childhood Absence Epilepsy
Typical absence seizure, Depression, Myoclonic absence seizure, Bilateral tonic-clonic seizure, A... ORPHA:64280
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Torticollis, Blepharospasm, Upper limb postural tremor, Myoclonus, Vocal tremor ORPHA:420485
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Spasticity, Myoclonic seizure, Ataxia, Myoclonus OMIM:618225
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Seizure, Gait ataxia, Involuntary movements, Slowed slurred speech,... ORPHA:391411
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline p... ORPHA:186
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Depression, Seizure, Spasticity, Tremor, Abnormality of neuronal migration OMIM:300957
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Action tremor, Ataxia, Parkinsoni... OMIM:619738
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com... OMIM:615468
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ... ORPHA:53351
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal dementia, Ankle clonus, Resti... OMIM:612953
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Seizure, Periventricular heterotopia, Simplified gyral pattern, Partial agenesis of the corpus ca... OMIM:616171
Aspergillosis
Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Pneumonia, Hepatitis, Infectious encephalitis ORPHA:1163
Serotonin Syndrome
Irritability, Hypertonia, Agitation, Seizure, Tremor, Confusion, Clonus, Rigidity, Delirium, Myoc... ORPHA:43116
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Seizure, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis... ORPHA:89844
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Amyotrophic Lateral Sclerosis 18
Fasciculations, Spasticity, Amyotrophic lateral sclerosis, Dysphagia OMIM:614808
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Recurrent res... OMIM:620565
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp... OMIM:617093
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... 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, Tremor, Ataxia, Dysphagia, Myoclonus, Aggressive behavior ORPHA:97229
Thyrocerebroretinal Syndrome
Seizure, Ataxia, Slurred speech, Myoclonus OMIM:274240
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Intention tremor, At... ORPHA:251347
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Liver abscess, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Atop... ORPHA:183675
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Arthritis, Sk... ORPHA:829
Hyperphenylalaninemia, Bh4-Deficient, B
Irritability, Hyperkinetic movements, Limb hypertonia, Seizure, Tremor, Rigidity, Dysphagia, Prog... OMIM:233910
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly... ORPHA:443811
Lissencephaly 5
Type II lissencephaly, Seizure, Gray matter heterotopia, Spastic paraplegia, Subcortical band het... OMIM:615191
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Recurrent bacterial infe... OMIM:102700
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Micronodular... OMIM:606003
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Hypertonia, Focal-onset seizure, Generalized myoclonic seizure, Limb hypertonia, M... OMIM:614498
Nephronophthisis 16
Cholestasis, Periportal fibrosis OMIM:615382
Cryoglobulinemic Vasculitis
Hepatomegaly, Arthritis, Viral hepatitis, Splenomegaly, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphadenitis... OMIM:615895
Parkinsonian-Pyramidal Syndrome