banner
Genes Phenotypes Help, News, Blog

Gene: Plaur MGI:97612

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Plaurem1(IMPC)H HOM Early adult 2.96×10-05
increased circulating glucose level Plaurem1(IMPC)H HOM Early adult 3.69×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

View images
Echo

M-Mode Images

36 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

18 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View 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
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, 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, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Myoclonus, Compulsive behaviors, Spinal myoclonus, Limb myoclonus ORPHA:36899
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Myoclonic seizure, Depression, Seizure, Dem... OMIM:162350
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... ORPHA:401901
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Confusion, Tremor, Focal-onset seizure, Babinski sign, Ga... OMIM:615362
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Confusion, Depression, Hemiparesis, Gait ataxia, Irritability, ... OMIM:123400
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Dementia, Abnormality of... OMIM:204300
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Seizure, Dementia, Myoclonus, Generalized myoclonic seizure OMIM:208700
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Dystonia 11, Myoclonic
Torticollis, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram... ORPHA:79262
Lissencephaly 3
Ataxia, Periventricular laminar heterotopia, Bilateral tonic-clonic seizure, Pachygyria, Spastic ... OMIM:611603
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Seizure, Lissencephal... OMIM:615411
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... ORPHA:86909
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Seizure, Lissencephaly, Spasticity, Pachygyria, Agenesis of corp... OMIM:300067
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Irritability, Myoclonus, ... OMIM:605899
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Seizure, Spasticity, Polymicrogyria, ... ORPHA:101029
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... OMIM:619191
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus, Mental deterioration OMIM:616187
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i... OMIM:612691
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Isolated Focal Cortical Dysplasia
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Abnormal cortical gyration... ORPHA:65683
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Lissencephaly 1
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lissencepha... OMIM:607432
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Motor seizure, Infantile spasms, Gray matter heterotopia, Seizure, Spasticity, Pachygyria, Agyria ORPHA:1084
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, A... OMIM:604317
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... ORPHA:2382
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia, Myoclonus OMIM:125370
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration ORPHA:2149
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Choreoathetosis, Seizure, Irritability, Hypertonia,... OMIM:261630
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Myoclonus OMIM:102300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Microcephaly 9, Primary, Autosomal Recessive
Impulsivity, Aggressive behavior, Simplified gyral pattern, Seizure, Self-injurious behavior, Com... OMIM:614852
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Mental ... OMIM:615924
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb ataxia, Choreoathetosi... OMIM:616230
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Gray matter heterotopia, ... ORPHA:99802
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Generalized-onset seizure, Infantile spasms, Spastic tetraplegia, Myoclonic seizure, Hypertonia, ... OMIM:618677
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Sei... OMIM:604213
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormality of neuronal migration, Seizure, Attention deficit hyperactivity disorder, Abn... OMIM:618709
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Babinski sign, Euphoria, Frontal lobe dementia, Seizure, Lateral ventricle d... OMIM:221770
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Microlissencephaly
Subcortical heterotopia, Bilateral tonic-clonic seizure with generalized onset, Periventricular h... ORPHA:1083
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Fo... ORPHA:725
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dementia, Myoclo... OMIM:254800
Periventricular Nodular Heterotopia 6
Seizure, Periventricular nodular heterotopia, Focal motor seizure, Infantile spasms OMIM:615544
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Seizure, Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia OMIM:608097
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... ORPHA:139507
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Abnormal repetitive manner... ORPHA:561854
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Short attention span, Bilateral tonic-clonic seizure with generalized onse... OMIM:619028
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Confusion, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, L... OMIM:607136
Glut1 Deficiency Syndrome 1
Ataxia, Confusion, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Sp... OMIM:606777
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Chorea, Myoclonic seizure, Seizure, Self-injurious behavior, Hyperkinetic moveme... OMIM:614254
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... ORPHA:314632
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Generalized ... ORPHA:307
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia, Spasticity OMIM:618185
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Symmetrical Thalamic Calcifications
Ataxia, Abnormality of neuronal migration, Seizure, Hypertonia, Cognitive impairment, Spasticity ORPHA:1314
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Dementia, Tongue fascicul... OMIM:159950
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious behavior, Hyperton... OMIM:300699
Polymicrogyria Due To Tubb2B Mutation
Focal-onset seizure, Perisylvian polymicrogyria, Oromotor apraxia, Hemiparesis, Gray matter heter... ORPHA:300573
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... OMIM:612736
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Juvenile Huntington Disease
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebell... ORPHA:248111
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Depression, Seizure,... ORPHA:399
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors OMIM:619651
Splenoportal Vascular Anomalies
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system OMIM:271500
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive psychomotor deterioration... ORPHA:263516
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor... OMIM:608105
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... OMIM:607346
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis OMIM:260570
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty... OMIM:607682
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status e... ORPHA:71277
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Cognitive impairment, Atypical absence se... OMIM:300388
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Ataxia, Depression, Seizure, Irritability, Myoclonus, Spasticity OMIM:256730
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus OMIM:609056
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat... OMIM:600795
Band Heterotopia
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Spa... OMIM:600348
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Attention deficit hyperactivity... OMIM:619971
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... OMIM:618497
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordin... ORPHA:79263
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepatosplenomegaly... OMIM:619858
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Dementia, Myoclonus, Generalize... OMIM:301020
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... ORPHA:240103
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Seizure, Periventricular nodular heterotopia, Spastic paraplegia OMIM:618572
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Lissencephaly, Myoclonus, Status epilepticus, Pachygyria, Polymic... OMIM:617507
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus OMIM:600143
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Seizure, Dementia, Disinhibition, Myoclonus, Apraxia, Memory impairment OMIM:618193
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... OMIM:618986
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Ap... OMIM:619111
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Dysphagia, Opisthotonus, Choreoathetosis, Seizure... ORPHA:13
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... ORPHA:66624
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... ORPHA:485350
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Motor deterio... OMIM:256731
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... ORPHA:369
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria,... 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
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwhee... OMIM:619725
Spinocerebellar Ataxia 13
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cogn... OMIM:605259
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Chronic oral candidiasis, R... ORPHA:276
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Jaun... OMIM:607765
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Prolonged neonatal jaundice ORPHA:446
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, H... OMIM:617290
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonu... ORPHA:352596
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Dementia, Abnor... OMIM:204200
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Seizure, Irritability, Myoclonus, Truncal ataxia, Agenesis of... OMIM:250620
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus OMIM:204500
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu... ORPHA:98813
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Subependymal Nodular Heterotopia
Focal-onset seizure, Partial agenesis of the corpus callosum, Abnormality of neuronal migration, ... ORPHA:101030
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus OMIM:618285
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Myoclonus, S... ORPHA:391417
Cerebral Palsy, Spastic Quadriplegic, 3
Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Seizure,... OMIM:617008
Maternal Hyperthermia-Induced Birth Defects
Seizure, Hypertonia, Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... OMIM:615338
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Cognitive impairment, Spastic gait, Progr... ORPHA:306511
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit h... OMIM:620065
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Confusion, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxi... ORPHA:1020
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Childhood-Onset Spasticity With Hyperglycinemia
Short attention span, Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Irritability, ... ORPHA:401866
Abeta Amyloidosis, Iowa Type
Memory impairment, Dementia, Myoclonus, Dysphagia ORPHA:324708
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Dystonia 23
Torticollis, Myoclonus, Head tremor OMIM:614860
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity OMIM:617065
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr... OMIM:137440
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor OMIM:620158
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy... ORPHA:254881
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Myoclonus, Dysmetria, Progressive neurologic deterioration OMIM:618251
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, ... ORPHA:168491
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Dysphagia, Seizure, Dementia, Abnormality of extrapyramidal ... OMIM:607822
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Myoclonus, Dysphagia, Spasticity OMIM:225753
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Cough, Dys... ORPHA:139402
Developmental And Epileptic Encephalopathy 92
Seizure, Spasticity, Ataxia, Myoclonus OMIM:617829
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Lower limb spasticity, Short attention span, Ataxia, Impulsivity, Paraparesis, Orom... OMIM:617854
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Posttransplant Acute Limbic Encephalitis
Ataxia, Confusion, Depression, Seizure, Myoclonus, Cognitive impairment, Memory impairment ORPHA:163921
Gaucher Disease, Type Iii
Ataxia, Progressive neurologic deterioration, Depression, Dementia, Myoclonus, Spastic paraparesi... OMIM:231000
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus, Depression OMIM:616398
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Spasticity, Pachygyria OMIM:620094
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... OMIM:606693
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... OMIM:617600
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Dementia, Abnormality of extrapyramida... ORPHA:204
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Irrita... ORPHA:101150
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus OMIM:619065
Microcephaly, Amish Type
Irritability, Partial agenesis of the corpus callosum, Myoclonus, Limb hypertonia OMIM:607196
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Cognitive impairment, Spasticity OMIM:617284
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... ORPHA:163681
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Infantile spasms, Tremor, Tongue thrusting, Limb myo... ORPHA:3095
Congenital Disorder Of Glycosylation, Type In
Seizure, Spasticity, Ataxia, Myoclonus OMIM:612015
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto... ORPHA:79264
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive psyc... ORPHA:363400
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal pyramidal si... OMIM:308350
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Spastic tetraparesis, Simplified gyral pattern, Seizure, Lateral ventricle dilat... ORPHA:284417
Brain Small Vessel Disease 2
Subcortical heterotopia, Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia... OMIM:614483
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive imp... OMIM:607876
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... OMIM:618935
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si... ORPHA:352582
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610090
Bilateral Striopallidodentate Calcinosis
Seizure, Abnormality of neuronal migration ORPHA:1980
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Lower limb spasticity, Hyperactivity, Parkinsonism, Anorexia, Aggressive behavior... ORPHA:3077
Narp Syndrome
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Irritability, Dementia, Myoclonic spasms ORPHA:644
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Dementia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Seizure, Athetosis, Irritability, Myoclonus OMIM:618241
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... OMIM:619913
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr... ORPHA:289266
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Dysphagia, Spas... ORPHA:313772
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... ORPHA:225154
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... OMIM:616212
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas... ORPHA:276198
Myoclonus, Intractable, Neonatal
Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation OMIM:617235
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... ORPHA:1163
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus OMIM:619862
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... ORPHA:98810
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Myocarditis, Splenomegaly, ... ORPHA:829
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... ORPHA:101
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Seizur... ORPHA:442835
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Cholelithiasis ORPHA:848
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Abnormal circulat... OMIM:618048
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Seizure, Irritability, H... OMIM:233910
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... ORPHA:79319
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure, Bradykine... OMIM:618877
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Essential Fructosuria
Hyperglycemia ORPHA:2056
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:615486
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, La... OMIM:619847
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor... ORPHA:186
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Lafora Disease
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Confusio... ORPHA:501
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Simplified gyral pattern, Seizure, Myoclonus, Dysphagia... OMIM:617669
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Seizure, Type II lissencephaly, Dysgyria ORPHA:352682
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Dementia, Abnormality of extrapyramidal motor function, Cognitive impairment, Mental... ORPHA:356
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... OMIM:613179
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... ORPHA:79230
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Self-... OMIM:617493
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus OMIM:618011
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Aggressive behavior, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, M... OMIM:618356
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Dementia, My... OMIM:616640
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia ORPHA:324588
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Seizure, Myoclonus, Cognitive impairment, Truncal ataxia, Spasticity OMIM:252011
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Early-Onset Lafora Body Disease
Ataxia, Confusion, Spastic tetraparesis, Seizure, Myoclonus, Mental deterioration ORPHA:324290
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Polymicrogyria, Myoclonus OMIM:300673
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, D... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, D... OMIM:616437
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Asthma, Hepatosplenomegaly, Hepatic fibrosis,... OMIM:606003
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia, Mental deteriora... OMIM:619780
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu... OMIM:116920
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia, Agenesis of corpus callosum OMIM:312170
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... OMIM:615851
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Abnormal repetitive mannerisms, Generalized non-motor (absence) seizure, Focal ... ORPHA:411986
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Tachypnea, Hepatocellular necrosis, Periportal fibrosis,... OMIM:201475
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Alexander Disease Type I
Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Dysphagia, Palatal tremor ORPHA:363717
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity OMIM:618225
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Nipah Virus Disease
Tremor, Seizure, Myoclonus, Anorexia ORPHA:99825
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor ORPHA:420485
Lichen Planopilaris
Hepatitis ORPHA:525
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He... ORPHA:541423
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Immunodeficiency 12
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... OMIM:615468
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Impaired oropharyngeal swallow ... ORPHA:53351
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Legionnaires Disease
Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Respiratory insuffici... ORPHA:549
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic m... OMIM:619738
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... OMIM:612953
Intellectual Developmental Disorder, X-Linked 12
Tremor, Abnormality of neuronal migration, Depression, Seizure, Hyperkinetic movements, Spasticity OMIM:300957
Serotonin Syndrome
Restlessness, Clonus, Confusion, Tremor, Rigidity, Seizure, Irritability, Hypertonia, Agitation, ... ORPHA:43116
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Seizure, Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heter... OMIM:616171
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Seizure, Dysphagi... ORPHA:89844
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Riboflavin Transporter Deficiency
Ataxia, Aggressive behavior, Tremor, Seizure, Myoclonus, Dysphagia ORPHA:97229
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Myoclonus, Dysphagia,... OMIM:168601
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... ORPHA:251347
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Dementia, Myoclonus... ORPHA:171695
Lissencephaly 5
Spastic paraplegia, Subcortical band heterotopia, Gray matter heterotopia, Seizure, Type II lisse... OMIM:615191
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o... ORPHA:91138
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Cholestasis, In... OMIM:615895
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subcortical dementia,... ORPHA:157846
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Facial-lingual fasci... OMIM:617281
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... OMIM:269200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity OMIM:618201
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomer... ORPHA:36234
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Myocarditis, Hepatitis, Cholestasis, Pleural effusion, Hepatic f... ORPHA:292
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis OMIM:602579
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... OMIM:612840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Partial agenesis of the corpus callosum, Vocal cord paralysis, Seizure, Myoclonu... ORPHA:500144
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Inappropriate ... OMIM:103050
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Babinski sign, Tongue thrusting, Limb tremor, Choreoat... OMIM:608643
Peho Syndrome
Seizure, Pachygyria, Polymicrogyria, Myoclonus OMIM:260565
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:216360
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t... ORPHA:199351
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern, Seizure, Truncal ataxia, Oculomotor apraxia OMIM:618273
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Short attention span, Ataxia, Confusion, Spastic tetrapares... ORPHA:139396
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ... OMIM:618218
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Se... ORPHA:309246
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis ORPHA:381
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc... OMIM:615816
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Myositis, Psoriasiform dermatitis, Osteomyel... ORPHA:37042
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Short attention span, Ataxia, Generalized clonic seizure, Tremor, Focal-on... OMIM:619229
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Cholestatic liver disease ORPHA:440713
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... OMIM:619487
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Incoordination, Tremor, Typical absence seizu... ORPHA:845
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Cholangitis, Portal hypertension, ... ORPHA:731
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... ORPHA:247585
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, ... ORPHA:98794
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Dyspnea, Hepatosplenomegaly, Chronic hepatitis, Hepatic fi... ORPHA:231226
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Spastic paraparesis, Palatal tremor ORPHA:363722
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... ORPHA:79279
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Cirrhosis, Pulmonary ar... OMIM:215600
Combined Oxidative Phosphorylation Deficiency 54
Generalized-onset seizure, Tremor, Dysplastic corpus callosum, Hemiparesis, Seizure, Hypertonia, ... OMIM:619737
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Infantile Krabbe Disease
Psychomotor deterioration, Lower limb spasticity, Progressive neurologic deterioration, Mental de... ORPHA:206436
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent falls OMIM:184850
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraplegia, Opisthotonus, Seizure, Foc... OMIM:220120
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Dyspnea, Hepatitis, Uvei... ORPHA:728
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity OMIM:618972
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykinesia, Myoclonus, ... ORPHA:98768
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:333
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolong... OMIM:619377
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation OMIM:610688
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Cough ORPHA:319218
Myasthenia Gravis
Myositis, Dyspnea, Hepatitis, Rheumatoid arthritis, Hashimoto thyroiditis ORPHA:589
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... OMIM:612949
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Seizure, Abnormality of neuronal migration ORPHA:65
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Reduced forced expiratory volume in one second, Hypersplenism,... OMIM:613385
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Intention tremor OMIM:616505
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis... OMIM:616672
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:164180
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Frontal lob... ORPHA:97355
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis, Cough ORPHA:1334
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Febrile seizure (... OMIM:616973
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Seizure, Abnormality of neuronal migration OMIM:300049
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movements, Upper limb s... ORPHA:457240
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Severe X-Linked Intellectual Disability, Gustavson Type
Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus, Spasticity ORPHA:3078
Dystonia 34, Myoclonic
Torticollis, Myoclonus, Hand tremor, Head tremor OMIM:619724
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Involuntary movements, Confusion, Rigidity, Foca... ORPHA:217253
Angelman Syndrome
Hyperactivity, Ataxia, Infantile spasms, Aggressive behavior, Tremor, Tongue thrusting, Polyphagi... ORPHA:72
Pyridoxal Phosphate-Responsive Seizures
Seizure, Hypertonia, Status epilepticus, Myoclonus ORPHA:79096
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... OMIM:608233
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... ORPHA:2968
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Opisthotonus OMIM:619814
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Asthma,... OMIM:203800
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Abnormal pattern of resp... ORPHA:1454
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Valinemia
Hyperkinetic movements OMIM:277100
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Wheezing, ... OMIM:300755
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eati... ORPHA:209905
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Frequent falls, Pachygyria ORPHA:370980
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Infantile spasms, Dysphagia OMIM:618374
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Perisylvian polymicrogyria, Spastic... ORPHA:268943
Galloway-Mowat Syndrome 10
Simplified gyral pattern, Myoclonus OMIM:619609
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Respiratory insufficie... OMIM:208500
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Aggressive behavior, Babinski sign, Seizure, Status epilepticus, ... ORPHA:364028
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
D-Glyceric Aciduria
Seizure, Chorea, Myoclonus, Spasticity ORPHA:941
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... OMIM:619777
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia, Self-biting, Seizure, Recurrent hand flapping OMIM:300624
Microcephaly-Capillary Malformation Syndrome
Infantile spasms, Spastic tetraparesis, Simplified gyral pattern, Seizure, Myoclonus OMIM:614261
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Depression, Gait ataxia, Seizure, Myoclonus, Cognitive impairment, Memory impairment ORPHA:70595
Fatal Familial Insomnia
Dementia, Ataxia, Myoclonus, Dysphagia OMIM:600072
Chiari Malformation Type Ii
Ataxia, Opisthotonus, Gray matter heterotopia, Dysphagia, Agenesis of corpus callosum OMIM:207950
Mepan Syndrome
Ataxia, Chorea, Myoclonus, Dysphagia, Spasticity ORPHA:508093
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Dysphagia, Generalized myoclonic se... ORPHA:93399
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramid... ORPHA:646
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus OMIM:619060
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Opisthotonus, Seizure, Limb h... OMIM:618076
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Seizure,... OMIM:618321
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Trem... ORPHA:1934
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Donohue Syndrome
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Li-Ghorbani-Weisz-Hubshman Syndrome
Seizure, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Babinski sign, Pachygyria, Abnormality of neuronal migration OMIM:608840
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Fasciculations, Dysphagia, Vocal cord paresis OMIM:619574
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Gray matter heterotopia, Seizu... OMIM:617201
Autoimmune Hypoparathyroidism
Confusion, Depression, Irritability, Myoclonic spasms, Hypocalcemic seizures ORPHA:36913
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Tongue fasciculat... OMIM:614969
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Dystonia-Aphonia Syndrome
Seizure, Myoclonus, Cognitive impairment, Dysphagia ORPHA:412217
Japanese Encephalitis
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Anorexia, Paralys... ORPHA:79139
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... ORPHA:221139
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Biliary cirrhosi... ORPHA:227990
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Dysphagia, Men... OMIM:254900
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Dyspnea, Hepatosplenomegaly, Hepatic fibrosi... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Hepatic steatosis OMIM:212065
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Rigidity, Focal-onset seizure, Spastic tetraplegia, Seizure,... OMIM:618476
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... OMIM:300672
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Seizure, Pachygyria, Agenesis of corpus callosum ORPHA:255138
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus OMIM:616158
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity OMIM:614299
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal... ORPHA:445038
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Rigidity, Abnormality of neuronal migration, Macrogyria, ... ORPHA:35107
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Tetrasomy 18P
Seizure, Abnormality of neuronal migration ORPHA:3307
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Biliary cirrhosi... ORPHA:227982
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype... OMIM:620005
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... ORPHA:447997
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Abnormal pancreas morphology, Hepatic fibr... ORPHA:48818
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... OMIM:605711
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... OMIM:612541
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Spasticity, Seizure OMIM:619694
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure OMIM:300337
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Dysphagia, Right hemiplegia OMIM:607426
Neuraminidase Deficiency
Seizure, Slurred speech, Myoclonus, Dysmetria OMIM:256550
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Myoclonus ORPHA:812
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Seizure, L... ORPHA:899
Bardet-Biedl Syndrome
Hepatic fibrosis ORPHA:110
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa... ORPHA:415
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements, Cognitive impairment ORPHA:209970
Kufor-Rakeb Syndrome
Eyelid apraxia, Short attention span, Parkinsonism, Confusion, Rigidity, Babinski sign, Abnormal ... ORPHA:306674
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Depression, Seizure, Progressive gait ataxia, Dimi... OMIM:607459
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Pachygyria, Tongue fasciculations, Myoclonus OMIM:614922
Mednik Syndrome
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Syndromic Diarrhea
Hepatomegaly, Gastritis, Splenomegaly, Abnormality of the liver, Colitis, Hepatic fibrosis, Cirrh... ORPHA:84064
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis OMIM:308240
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Edinburgh Malformation Syndrome
Seizure, Hypertonia, Abnormality of neuronal migration ORPHA:1895
Congenital Muscular Dystrophy With Cerebellar Involvement
Clonus, Abnormal pyramidal sign, Gray matter heterotopia, Seizure, Polymicrogyria, Agenesis of co... ORPHA:370959
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Abnormal repetitive mannerisms, Gray matter het... OMIM:619312
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Respiratory insufficiency ORPHA:2031
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit... ORPHA:391487
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Viral hepatitis, Herpes simplex encephalitis,... ORPHA:83597
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Spasti... OMIM:616271
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Eczema... ORPHA:3260
Oromandibular Dystonia
Torticollis, Dysphagia, Depression, Blepharospasm, Hyperkinetic movements, Bruxism ORPHA:93958
Galloway-Mowat Syndrome
Hemiplegia/hemiparesis, Abnormality of neuronal migration, Seizure, Hypertonia, Cognitive impairm... ORPHA:2065
Joubert Syndrome 30
Gray matter heterotopia, Seizure OMIM:617622
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Infantile spasms, Periventricular heterotopia, Self-injurious behavior, Focal impair... OMIM:618929
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... OMIM:242840
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Hepatic fibrosis,... OMIM:222470
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Limb tremor, Head tremor, Myoclonus ORPHA:420492
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop... OMIM:615846
Thanatophoric Dysplasia Type 2
Seizure, Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Whipple Disease
Ataxia, Anorexia, Abnormal pyramidal sign, Depression, Seizure, Myoclonus, Polydipsia ORPHA:3452
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Neonatal Adrenoleukodystrophy
Seizure, Abnormality of neuronal migration ORPHA:44
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Opsoclonus-Myoclonus Syndrome
Ataxia, Rigidity, Irritability, Myoclonus, Cognitive impairment, Limb myoclonus ORPHA:1183
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Infantile spasms, Focal-onset seizure, Paraparesis, Oromotor apraxia, Peri... ORPHA:98889
Cog8-Cdg
Seizure, Ataxia, Myoclonus ORPHA:95428
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Psoriasiform dermatitis, Enterocolitis OMIM:243150
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Keratoconjunctivitis sicca, Respiratory failure, Hep... ORPHA:14
Melas
Short attention span, Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Fo... ORPHA:550
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia OMIM:200995
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Adams-Oliver Syndrome
Congenital hepatic fibrosis, Cirrhosis, Pulmonary arterial hypertension, Portal hypertension ORPHA:974
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Seizure, Colpocephaly, Lissencephaly, Agenesis... OMIM:615219
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic ... ORPHA:509
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... ORPHA:314655
Joubert Syndrome 1
Central apnea, Hepatic fibrosis, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Ataxia, Aggressive behavior, Periventricular heterotopia, Irritability, Colpoceph... OMIM:619833
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus OMIM:246450
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Progressive psychomotor deterioration, Polyphagia, Myoclonus ORPHA:251004
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Fatigable weakness of respiratory muscles ORPHA:681
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Cardiorespiratory arrest OMIM:619879
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Stere... OMIM:617302
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie... OMIM:619381
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Seizure OMIM:617397
Argininosuccinic Aciduria
Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration OMIM:207900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:620024
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Infantile spasms, Seizure, Athetosis, Hyperkinetic movements, Irritabi... OMIM:612073
9P13 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Myoclonus, Hand tremor, Bruxism ORPHA:324313
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Irritability, Hyperto... OMIM:252160
Postinfectious Vasculitis
Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration... ORPHA:48435
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... ORPHA:436252
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy... ORPHA:3261
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Abnormality of neuronal migration, Self-injurious behavior, Hypertonia... ORPHA:261236
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Hepatitis, Cholestasis ORPHA:562
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Hsd10 Disease, Infantile Type
Restlessness, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure... ORPHA:391428
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Seizure, Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo... OMIM:124000
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Acalvaria
Abnormality of neuronal migration ORPHA:945
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H... OMIM:617053
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Alg11-Cdg
Ataxia, Opisthotonus, Gray matter heterotopia, Seizure, Hypertonia, Limb hypertonia ORPHA:280071
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Seizure, Hypertonia, Abnormality of neuronal migration ORPHA:2518
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis OMIM:613989
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Microtriplication 11Q24.1
Speech apraxia, Seizure, Hyperkinetic movements, Bruxism ORPHA:289522
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Myoclonus OMIM:620167
Joubert Syndrome
Ataxia, Tremor, Abnormality of neuronal migration, Seizure, Oculomotor apraxia, Polymicrogyria ORPHA:475
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... OMIM:218330
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Poretti-Boltshauser Syndrome
Oculomotor apraxia, Gray matter heterotopia OMIM:615960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... OMIM:614643
Congenital Sialidosis Type 2
Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity ORPHA:93400
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Asthma, Hepatic fibrosis OMIM:209900
Late-Onset Isolated Acth Deficiency
Hepatitis, Hashimoto thyroiditis ORPHA:199299
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Seizure, Hypertonia, Hyperkinetic movements OMIM:236270
Congenital Disorder Of Deglycosylation 1
Restlessness, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysmetria, Myoclonic seiz... OMIM:615273
Periventricular Nodular Heterotopia
Focal-onset seizure, Periventricular heterotopia ORPHA:98892
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib... OMIM:248500
Cerebrotendinous Xanthomatosis
Resting tremor, Short attention span, Ataxia, Parkinsonism, Aggressive behavior, Paraparesis, Bab... ORPHA:909
Ethylene Glycol Poisoning
Ataxia, Confusion, Slurred speech, Euphoria, Seizure, Addictive alcohol use, Myoclonus ORPHA:31826
Man1B1-Cdg
Seizure, Polyphagia, Resting tremor, Periventricular heterotopia ORPHA:397941
Vici Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum ORPHA:1493
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia ORPHA:2752
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis of corpus callosum ORPHA:157
Neurocutaneous Melanocytosis
Hemiparesis, Seizure, Abnormality of neuronal migration ORPHA:2481
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Ataxia, Myoclonus OMIM:619167
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Pu... ORPHA:2072
Combined Oxidative Phosphorylation Deficiency 14
Seizure, Myoclonus, Myoclonic seizure OMIM:614946
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Bilateral tonic-clonic seizure, Seizure, Myoclonus, Oculomotor apraxia ORPHA:247262
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized myoclonic seizure, Infantile spasms, Action tremor, Chorea, Generalized non-motor (ab... ORPHA:404454
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Thanatophoric Dysplasia
Gray matter heterotopia, Seizure ORPHA:2655
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus OMIM:619055
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Seizure, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl... OMIM:301072
Gaucher Disease
Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Respiratory insufficiency, ... ORPHA:355
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Meningitis, Recurrent bacterial infections ORPHA:36412
Cole Disease
Hyperglycemia OMIM:615522
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short attention span, Aggressive behavior, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic mov... ORPHA:17
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Anorexia, Spastic hemiparesis, Seizure, Myoclonus, Spasticity ORPHA:20
Sialuria
Memory impairment, Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder ORPHA:3166
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Abnormal repetitive mannerisms, Abnormal pyramidal sign,... ORPHA:468631
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Inf... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Inf... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Inf... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Thyroiditis, Biliary cirrhosis, Gastrointestinal inflammation, Inf... ORPHA:881
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... OMIM:203700
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Dysphagia OMIM:619775
Ataxia-Telangiectasia
Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressive cerebellar ataxia, Dysdiado... OMIM:208900
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Hepatomegaly, Periportal fibrosis, Respiratory insufficiency OMIM:269860
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Vocal cord pa... OMIM:617799
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619534
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts OMIM:311200
Pseudohypoparathyroidism Type 1B
Irritability, Myoclonic spasms, Hypocalcemic seizures, Depression ORPHA:94089
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Spasticity OMIM:620089
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Leukodystrophy, Hypomyelinating, 10
Seizure, Spasticity, Babinski sign, Hyperkinetic movements OMIM:616420
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Abnormality of neuronal migration, Seizure, Polymicrogyria, Agenesis of corpus callosum ORPHA:228308
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis OMIM:263520
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... ORPHA:75857
Periventricular Nodular Heterotopia 9
Focal-onset seizure, Gray matter heterotopia, Compulsive behaviors, Attention deficit hyperactivi... OMIM:618918
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Skin rash, Maculopapular exanthema, Crackles... ORPHA:319213
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Leigh Syndrome
Ataxia, Involuntary movements, Infantile spasms, Progressive neurologic deterioration, Chorea, Sp... ORPHA:506
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Opisthoton... ORPHA:2671
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Irritability, Hyperkinetic movements, Emotional lability, Polydipsia, Poly... ORPHA:525731
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Seizure, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Seizure, Self-injurious behavior, Hypertonia, Progressive spas... ORPHA:192
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Seizure ORPHA:531151
Joubert Syndrome With Oculorenal Defect
Seizure, Ataxia, Abnormality of neuronal migration ORPHA:2318
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus OMIM:256700
Poliomyelitis
Confusion, Anorexia, Paralysis, Paraparesis, Irritability, Hyperkinetic movements, Agitation, Fas... ORPHA:2912
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Spasticity, Infantile spasms OMIM:618797
Tick-Borne Encephalitis
Speech apraxia, Generalized-onset seizure, Incoordination, Anorexia, Paralysis, Tremor, Focal-ons... ORPHA:297
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Asthma, Hepatic cysts ORPHA:79328
Miller-Dieker Lissencephaly Syndrome
Epileptic spasm, Infantile spasms, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, A... OMIM:247200
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Autosomal Dominant Hypocalcemia
Depression, Emotional lability, Cortical myoclonus ORPHA:428
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Photosensitive tonic-clonic seizure, Dysphagia, Seizure, Hyperkinetic movements, Truncal ... OMIM:300243
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Cerebrofacioarticular Syndrome
Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, Self-injurious behavior, Agenesis of... ORPHA:314679
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Infantile spasms, Periventricular he... OMIM:618733
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Seizure OMIM:614887
Pseudohypoparathyroidism Type 1C
Confusion, Depression, Irritability, Myoclonic spasms, Polyphagia, Hypocalcemic seizures ORPHA:79444
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Spastic paraparesis, Spasticity OMIM:609136
Occipital Horn Syndrome
Cholestasis, Jaundice, Hepatitis, Esophagitis ORPHA:198
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms OMIM:252150
Alkuraya-Kucinskas Syndrome
Oculomotor apraxia, Gray matter heterotopia, Seizure, Lissencephaly OMIM:617822
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spasticity OMIM:618426
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Pseudohypoparathyroidism Type 1A
Involuntary movements, Confusion, Depression, Choreoathetosis, Irritability, Myoclonic spasms, Po... ORPHA:79443
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
16Q24.3 Microdeletion Syndrome
Seizure, Colpocephaly, Dysphagia, Periventricular heterotopia ORPHA:261250
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Irritability, Myoclonus, Tetraplegia OMIM:618278
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Glycogen Storage Disease Ib
Splenomegaly, Recurrent bacterial infections, Neutropenia OMIM:232220
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Listeriosis
Ataxia, Tremor, Hemiparesis, Seizure, Irritability, Myoclonus ORPHA:533
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Gray matter heterotopia, Ataxia OMIM:617563
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Seizure OMIM:219730
Chromomycosis
Recurrent bacterial infections ORPHA:182
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Thrombocytopenia, Intraalveolar phospholipid accumu... ORPHA:470
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Myoclonus ORPHA:466677
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Seizure ORPHA:1860
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Seizure, Dysphagia ORPHA:26791
Bohring-Opitz Syndrome
Gray matter heterotopia, Seizure, Agenesis of corpus callosum OMIM:605039
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Seizure, Attention deficit hype... OMIM:305450
Aicardi Syndrome
Epileptic spasm, Infantile spasms, Partial agenesis of the corpus callosum, Gray matter heterotop... OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Seizure, Myoclonus, Spasticity, Pachygyria, Polymicrogyria, Type II lissencephaly OMIM:253280
Lathosterolosis
Seizure, Myoclonus ORPHA:46059
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seiz... ORPHA:2495
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Orofaciodigital Syndrome Type 6
Tremor, Seizure, Ataxia, Abnormality of neuronal migration ORPHA:2754
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Seizure, Agenesis of corpus callosum OMIM:603671
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Abnormality of neuronal migration, Seizure, Attention deficit hyperactivi... ORPHA:464311
Holoprosencephaly 14
Gray matter heterotopia, Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure,... OMIM:619895
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Hypert... OMIM:619124
X-Linked Intellectual Disability, Snyder Type
Generalized myoclonic seizure, Involuntary movements, Focal motor seizure, Myoclonus ORPHA:3063
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Seizure, Dysphagia, Frequent falls, Polymicrogyria OMIM:214100
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, H... ORPHA:64
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... ORPHA:522077
Johanson-Blizzard Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:243800
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Seizure, Impulsivity OMIM:610443
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Diabetes mellitus ORPHA:465508
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Ataxia, Tremor, Chorea, Seizure, Athetosis, Hyperkinetic movements, Truncal ataxia OMIM:615356
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Attention deficit hyperactivit... OMIM:618820
Dend Syndrome
Hyperglycemia ORPHA:79134
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Holoprosencephaly
Chorea, Abnormality of neuronal migration, Seizure, Cognitive impairment, Spasticity ORPHA:2162
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:284339
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Progressive neurologic deterioration, Partial agenesis of the corpus ... OMIM:210710
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Seizure, Spasticity, Agenesis of corpus callosum, Type II lissencephaly OMIM:615287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Involuntary movements, Seizure, Myoclonus, Dysphag... ORPHA:438213
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Seizure, Bruxism ORPHA:453499
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Gray matter heterotopia, Seizure, Bruxism, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Gray matter heterotopia, Seizure, Bruxism, Agenesis of corpus callosum ORPHA:352665
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Doors Syndrome
Polymicrogyria, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria OMIM:227810
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Abnormal liver parenchyma morp... ORPHA:79318
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Smith-Lemli-Opitz Syndrome
Hyperactivity, Periventricular heterotopia, Aggressive behavior, Partial agenesis of the corpus c... OMIM:270400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Respiratory insufficiency ORPHA:93271
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Atypical Werner Syndrome
Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi... ORPHA:79474
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Leprechaunism
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... ORPHA:508
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Orofaciodigital Syndrome Xiv
Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula... OMIM:615948
Hydrolethalus Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration OMIM:236680
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum OMIM:606170
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia ORPHA:293987
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Focal-onset seizure, Abnormal repetitive mannerisms, Dysphagia, Poor... ORPHA:261537
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Mowat-Wilson Syndrome
Ataxia, Periventricular heterotopia, Focal-onset seizure, Abnormal repetitive mannerisms, Dysphag... ORPHA:2152
Proteus Syndrome
Gray matter heterotopia, Seizure ORPHA:744
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia ORPHA:642
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Focal-onset seizure, Abnormal repetitive mannerisms, Dysphagia, Poor... ORPHA:261552

Histopathology

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

There is no histopathology data for Plaur

IMPC related publications

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

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

Order Mouse and ES Cells

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter