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Gene: Gabbr1 MGI:1860139

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gamma-aminobutyric acid type B receptor subunit 1
Synonyms:
GABAbR1,  GABAB1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gabbr1 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 Gabbr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Affective Disorder 1
Mania, Depression OMIM:125480
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Major Depressive Disorder
Depression OMIM:608516
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:615006
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... OMIM:615400
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... ORPHA:163721
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... OMIM:266100
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Myocloni... OMIM:616187
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Focal motor seizure, Generalized non... OMIM:617665
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... ORPHA:2382
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:254800
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:617389
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seiz... OMIM:619157
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... OMIM:617113
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Cryptorchid... ORPHA:485350
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk, Focal-onset seizure... ORPHA:330050
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... OMIM:607682
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality, Seizure, In... OMIM:608636
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Hyps... OMIM:616409
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... ORPHA:36387
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, EEG wit... ORPHA:86909
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:617904
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Developmental And Epileptic Encephalopathy 74
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical... OMIM:618396
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavi... OMIM:271980
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Generalized non-motor (... OMIM:617810
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... OMIM:616139
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Slender build OMIM:617709
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Confusion, Tremor, Focal-onset seizure, Gait ataxia, Depr... OMIM:615362
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... OMIM:619913
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Aggressive behavior, Generalized non-motor (absence) seizure, Torsion dystonia, Choreoath... ORPHA:98811
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Restlessness, Epileptic spasm, Delayed CNS myelination, EEG with bu... ORPHA:3006
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... ORPHA:1942
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Fever, Antalgic gait ORPHA:168621
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady... OMIM:617711
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemi... OMIM:620145
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality OMIM:612621
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... OMIM:613855
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Choreoathetosi... OMIM:609056
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona... ORPHA:140927
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... ORPHA:168491
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Depression, Myoclonic seizure, Seizure, Dementia, Myoclonus OMIM:162350
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, EEG with photoparoxysmal re... OMIM:616230
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Dementia, Myoclonus, Men... OMIM:204300
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr... OMIM:619639
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Cryptorchidism, Inability to... ORPHA:457205
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Hypsarrhy... OMIM:619701
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Delayed CNS myelination, To... OMIM:619606
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, EEG abnorm... OMIM:617106
Pyknoachondrogenesis
Stillbirth OMIM:265880
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... OMIM:617862
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Generalized non-motor (absence) seizure, Primary amenorrhea, Seizure, Delayed ... OMIM:616033
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Atonic seizure, Ora... ORPHA:208447
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Dysmetri... OMIM:618090
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att... OMIM:619191
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Delayed CNS myelination, EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-cloni... OMIM:619428
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG abnormality, Dystonia, Generalized myoclonic ... OMIM:617836
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Focal EEG discharges with secondary generalization, EEG with foca... ORPHA:263516
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Fasting hyperinsulinemia, Generalized non-motor (absence) seizure, EEG... ORPHA:35878
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:607876
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Athetosis, Self-injur... ORPHA:382
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... OMIM:617771
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence se... OMIM:300388
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Optic atrophy, My... OMIM:611726
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Optic atrophy, Hypsarrhythmia, Seizure, Status epilepticu... OMIM:617830
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Dementia, Gait i... OMIM:301020
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized ... OMIM:617976
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Infantile spasms, Inability to walk, Multifocal epileptiform discharges, Generali... ORPHA:411986
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Pontiac Fever
Fever ORPHA:99748
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Inability to walk, Clonic seizure,... OMIM:618917
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoc... OMIM:618497
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Foca... OMIM:617166
Lafora Disease
Ataxia, Confusion, Depression, Hypsarrhythmia, Seizure, Focal sensory seizure with visual feature... ORPHA:501
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait... OMIM:620317
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Limb ataxia, Gait ataxia OMIM:614322
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Angelman Syndrome
Tremor, Hyperactivity, Ataxia, Cerebral dysmyelination, Tongue thrusting, EEG abnormality, Seizur... ORPHA:72
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... OMIM:618596
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Cerebral dysmyelination, Typical absence s... ORPHA:101070
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizur... ORPHA:561854
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Obesity, Hyperphagia, And Developmental Delay
Delayed myelination, Polyphagia, Generalized non-motor (absence) seizure, Seizure, Abnormal repet... OMIM:613886
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Optic atrophy, Irritability, Dystonia, CNS demyelination OMIM:618237
Severe Canavan Disease
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Optic atrophy, Irri... ORPHA:314911
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Hypsarrhythmia, Myoclonic seizure, Seizure OMIM:226750
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:300558
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618117
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Depression, Irr... OMIM:618093
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... ORPHA:3077
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Generalized non-motor (absence) seizure, Difficulty walking, Leukodystrophy OMIM:618242
Lipoid Proteinosis Of Urbach And Wiethe
Memory impairment, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior OMIM:247100
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Inability to walk, Foca... OMIM:617105
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Optic atrophy... OMIM:603896
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Optic atrophy, Seizure, Dementia, Myoc... OMIM:204200
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Cyclic Neutropenia
Fever OMIM:162800
Periventricular Nodular Heterotopia 7
Optic disc pallor, Delayed CNS myelination, Ataxia, Infantile spasms, Cryptorchidism, Generalized... OMIM:617201
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Gait disturbance, Eating-ind... ORPHA:544254
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Op... ORPHA:254881
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di... ORPHA:209370
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... OMIM:613970
Neurodevelopmental Disorder With Involuntary Movements
Delayed CNS myelination, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Multifocal e... OMIM:617493
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Bilateral tonic-clonic seizure, Hyperhidrosis, Dep... ORPHA:79264
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:617690
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Clonic seizur... OMIM:618012
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Cln3 Disease
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental deterior... ORPHA:228346
Macrophagic Myofasciitis
Fever ORPHA:592
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... OMIM:617290
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... OMIM:616973
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Mental deterioration, Generalized non-mot... OMIM:620166
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Mantle Cell Lymphoma
Fever, Anorexia ORPHA:52416
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... ORPHA:363558
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, M... OMIM:619301
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Delayed CNS myelination, Bilateral tonic-clonic seizure, Impaired tandem gait, Seizure, Falls, Ga... OMIM:300423
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Dehydration ORPHA:28
Chronic Hiccup
Dehydration ORPHA:396
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... ORPHA:91131
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Athetosis, Demyelinat... OMIM:614559
Peho-Like Syndrome
Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Dystonia OMIM:618425
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Hyperprolinemia Type 2
Early onset absence seizures, Short attention span, Generalized-onset seizure, Confusion, Aggress... ORPHA:79101
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Clonic seizure, Delayed myelination, Optic atrophy, Multifocal epilepti... ORPHA:79097
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
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
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus, EEG abnormality OMIM:618760
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia OMIM:104290
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Ataxia, Optic atrophy, Choreoathetosis, Seizure, Leukodystrophy, Dystoni... OMIM:616034
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Clonic seizure, Gait ataxia, Choreoathetosis, Myoclonic seizure, Opisthotonus, Abnormal repetitiv... OMIM:619580
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Bilateral tonic-clonic seizure, Decreased response to growth hormone s... ORPHA:457240
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seiz... OMIM:618170
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Delayed myelination, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:576283
Pick Disease Of Brain
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... OMIM:172700
Harel-Yoon Syndrome
Ataxia, Inability to walk, Optic atrophy, Generalized non-motor (absence) seizure, Dystonia OMIM:617183
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, M... OMIM:619302
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Delayed myelination, Generalized non-motor (abse... ORPHA:79351
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, ... OMIM:614487
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Cryptorchidism, Repetitive compulsive behavior, Inability to walk, General... OMIM:300260
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Sarcosinemia
Emotional lability, Optic atrophy, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Severe demyelination of the white matter, Gait ataxia, Seizure, E... ORPHA:488635
Lissencephaly 3
Seizure, Generalized tonic seizure, Ataxia, Bilateral tonic-clonic seizure OMIM:611603
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tremor, EEG with burst ... OMIM:612164
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Delayed myelination, Generalized non-motor (absence) seizu... ORPHA:363686
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive in infancy OMIM:619065
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, EEG abnormality, Dysdiadochokinesis,... ORPHA:313772
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Hyperactivity, Precocious puberty, EEG with burst suppression, Hypsarrhy... ORPHA:1934
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, G... OMIM:616981
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... OMIM:617600
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618187
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... ORPHA:467166
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... OMIM:273250
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, P... OMIM:616521
Houge-Janssens Syndrome 3
Delayed CNS myelination, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:618354
Tuberculosis
Fever ORPHA:3389
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... OMIM:602066
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizur... OMIM:619725
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, El... ORPHA:3044
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Perrault Syndrome 1
Ataxia, Increased circulating gonadotropin level, Primary amenorrhea, Gait ataxia, Intention tremor OMIM:233400
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Hand tremor, Abnormal myelination ORPHA:401840
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia ORPHA:2023
Cholangiocarcinoma
Fever, Anorexia ORPHA:70567
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Bilateral tonic-clonic seizure, Delayed peripheral myelination, Puberty an... ORPHA:464282
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic... OMIM:300912
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, S... ORPHA:529665
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile ... OMIM:612736
46,Xy Sex Reversal 1
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... OMIM:400044
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormal peripheral myelination, Increased circulating gonadotropin level, Testicul... ORPHA:168563
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Precocious puberty, Inability to wa... ORPHA:845
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Precocious puberty, Ina... OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Inflammatory Skin And Bowel Disease, Neonatal, 2
Long eyelashes, Polyhydramnios, Dehydration OMIM:616069
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Nocturnal seizures, H... OMIM:619229
Aminoacylase 1 Deficiency
Delayed CNS myelination, Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Congenital Disorder Of Glycosylation, Type Iiy
Delayed CNS myelination, Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Liang-Wang Syndrome
Dystonia, Ataxia, Generalized non-motor (absence) seizure, Status epilepticus OMIM:618729
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Irritability, Pseudobulbar p... ORPHA:199354
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Nicolaides-Baraitser Syndrome
Epileptic spasm, Cryptorchidism, Generalized non-motor (absence) seizure, Seizure, Status epilept... ORPHA:3051
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG with generalized poly... ORPHA:163681
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta ... ORPHA:98784
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Delayed myelination, Optic atrophy, Irritability, Athetosis, Seizure, Gait dis... OMIM:618241
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Dementia, M... OMIM:159950
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Ataxia, Optic atrophy, Depression, Difficulty walking, Amenorrhea OMIM:619425
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, Aggressive behavior, Tremor, Inability to walk,... ORPHA:228360
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Central Diabetes Insipidus
Lethargy, Dehydration ORPHA:178029
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination, Ataxia, Impulsivity, Tremor, Unsteady gait, Optic atrophy, EEG with multifo... ORPHA:442835
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... ORPHA:488613
Developmental And Epileptic Encephalopathy 110
Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, Focal impa... OMIM:620149
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges,... OMIM:272300
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... ORPHA:99429
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Cryptorchidism, Unsteady gait, Generalized non-motor (absence) se... OMIM:617798
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotension, Reduced c... ORPHA:95512
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Lethargy, Ataxia, Dehydration ORPHA:27
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... OMIM:619983
Isovaleric Acidemia
Lethargy, Dehydration OMIM:243500
Hypercalcemia, Infantile, 1
Lethargy, Dehydration OMIM:143880
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Transient Neonatal Diabetes Mellitus
Umbilical hernia, Dehydration ORPHA:99886
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Abnormal myelination, Generalized myoclonic seizure, Infantile spasms, Atonic ... ORPHA:404454
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Delayed myelination, Generalized non-motor (absenc... OMIM:613839
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Lethargy, Dehydration ORPHA:79312
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Inability to walk ... OMIM:620224
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Ataxia, Bilateral tonic-clonic seizure, Pr... OMIM:268800
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Delay... ORPHA:544503
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Mental deterioration, Generalized no... ORPHA:395
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:8
3P25.3 Microdeletion Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Ring Chromosome 21 Syndrome
Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, EEG abnormality, A... ORPHA:1445
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... OMIM:600721
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharge... OMIM:271900
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic gait, Dysmetria, Gait ataxia OMIM:615031
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Dysmetria, Gait disturbance, At... ORPHA:93952
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Dystonia ORPHA:53583
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Seizure, Focal clonic seizure, Lo... OMIM:617933
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Hypsarrhythmia, Opisthotonus,... ORPHA:95232
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Mental deterioration, ... ORPHA:329308
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hand tremor, Head tremor, Hypothyroidism, Seizure, Gait disturbance, Oligomenorrhea, Cognitive im... ORPHA:412057
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Spinocerebellar Ataxia Type 10
Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady gait, Focal motor seizur... ORPHA:98761
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Elevated circulat... OMIM:609441
Chronic Recurrent Multifocal Osteomyelitis 3
Fever OMIM:259680
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, EEG with focal sharp... ORPHA:79243
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Elbow flexion contracture, Dehydration, Knee flexion contracture, Camptodact... OMIM:214150
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se... OMIM:615300
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
D-Glyceric Aciduria
Delayed CNS myelination, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Tongue thrusting... OMIM:220120
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, S... OMIM:619911
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Developmental And Epileptic Encephalopathy 100
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-o... OMIM:619777
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Spastic gait, Difficulty walking, Limb tremor ORPHA:401820
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Aganglionic megacolon, Inability to walk, Generalized non-motor (... OMIM:614207
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
49,Xyyyy Syndrome
Abnormality of the testis size, Impulsivity, Increased circulating gonadotropin level, Azoospermi... ORPHA:99330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing ORPHA:157941
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Cryptorchidism, Generalized non-motor (absence) seizure, Depression, Irritabilit... ORPHA:96147
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotensi... ORPHA:91355
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... OMIM:617281
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Seizure, Bruxism OMIM:615716
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating luteinizing hormone level, Dec... ORPHA:90796
Enteric Anendocrinosis
Dehydration ORPHA:83620
Dpm1-Cdg
Early onset absence seizures, Ataxia, Delayed myelination, Optic atrophy, Seizure, Generalized my... ORPHA:79322
Reticular Dysgenesis
Dehydration ORPHA:33355
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Delayed CNS myelination, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:615802
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Severe demyelination of the white ma... ORPHA:481152
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor... OMIM:615398
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Ataxia, Increased circulating gonadotropin level, ... ORPHA:243
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog... ORPHA:91347
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intens... ORPHA:309155
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Seizure, Decreased fertility in males, Delayed ... ORPHA:2965
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Unsteady gait, Depression, Abnormal synaptic transmission, Blephar... ORPHA:683
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Dystonia, Optic at... ORPHA:480864
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... OMIM:617442
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:261534
Carnitine Deficiency, Systemic Primary
Lethargy, Dehydration OMIM:212140
46,Xy Partial Gonadal Dysgenesis
Male infertility, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hyp... ORPHA:251510
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Cryptorchidism, Focal-o... OMIM:619435
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive... ORPHA:2131
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Melas
Hypoparathyroidism, Short attention span, Diabetes mellitus, Hypogonadotropic hypogonadism, Ataxi... ORPHA:550
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Chromosome 22Q13 Duplication Syndrome
Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ... OMIM:615538
Familial Cold Urticaria
Dehydration ORPHA:47045
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Bilateral tonic-clonic seizure, Facial palsy... ORPHA:79139
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Orthostatic Hypotension 1
Seizure, Retrograde ejaculation, Reduced circulating prolactin concentration, Orthostatic hypoten... OMIM:223360
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Tip-toe gait, Gait disturbance ORPHA:216866
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Fatigable weakness, Fatigable weakness of neck muscles, F... ORPHA:42
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges ORPHA:453510
3-Methylglutaconic Aciduria, Type Viia
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic sei... OMIM:619835
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Jaberi-Elahi Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Dysme... OMIM:617988
Hereditary Central Diabetes Insipidus
Fever, Polydipsia ORPHA:30925
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Elevated circulati... ORPHA:300373
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Dehydration, Fine ... ORPHA:634
Developmental And Epileptic Encephalopathy 95
Delayed CNS myelination, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Inability t... OMIM:618143
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Diabetes mellitus, Bilateral tonic-clonic seizure, Dementia OMIM:540000
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus, Myoclonus... OMIM:616672
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bruxism OMIM:612337
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co... ORPHA:309246
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Bilateral tonic-clonic seizure, Abnormal circulating renin, Athetosis, Seizu... ORPHA:369929
Propionic Acidemia
Lethargy, Dehydration OMIM:606054
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Optic atrophy, CNS hy... OMIM:617193
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Dehydration OMIM:560000
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Seizur... ORPHA:91351
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Delayed CNS myelination, Bilateral tonic-clonic seizure, Optic ner... OMIM:620330
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ... ORPHA:2388
Weaver Syndrome
Delayed CNS myelination, Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (a... OMIM:277590
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of temperature regulation ORPHA:98757
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Lead Poisoning
Decreased female libido, Abnormality of the autonomic nervous system, Anorexia, Abnormality of th... ORPHA:330015
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, E... OMIM:602481
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Lamellar Ichthyosis
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dehydration ORPHA:313
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Inguinal hernia OMIM:614857
Autosomal Agammaglobulinemia
Dehydration, Cellulitis ORPHA:33110
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Bradykinesia, Titubation, Gait disturbance, Abnormal posturing ORPHA:225147
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Dehydration OMIM:251000
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Abnormal myelination ORPHA:85179
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Aggressive behavior, Cryptorchidism, Seizure, Status epilepticus,... ORPHA:364028
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Pica, Generalized non-motor (absence) seizure OMIM:617360
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Delayed CNS myelination, Diabetes mellitus, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:614231
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Supernumerary nipple, Aggressive behavior OMIM:616083
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Hypothyroidism, Ataxi... ORPHA:268261
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Intention tremor, Focal clonic seizure, Optic nerve hypoplasia, Bilateral tonic-clonic seizure OMIM:618381
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Seizure, Optic atrophy, Abnormal myelination ORPHA:352682
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Optic atrophy, Dysphagia, Cerebral hypomyelinat... ORPHA:496641
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
African Trypanosomiasis
Papilledema, Akinesia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, A... ORPHA:3385
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure, Gait imbalance OMIM:618120
Cystinosis
Gait disturbance, Dehydration ORPHA:213
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Se... ORPHA:258
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Polyhydramnios, Flexion contracture, Dehydration, Choreoathetosis OMIM:616271
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Optic atrophy, Myoclonic seizure, Decreased te... OMIM:614222
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral tonic-clonic seizure, Bilateral cryptorchidism, Scissor gait, Optic atrophy, Ch... OMIM:278800
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Abnormal myelination ORPHA:401830
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Supernumerary nipple, ... ORPHA:247262
Webb-Dattani Syndrome
Delayed CNS myelination, Bilateral tonic-clonic seizure, Decreased response to growth hormone sti... OMIM:615926
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, ... ORPHA:171680
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Bilateral tonic-clonic seizure, Precocious puberty, Multifocal epileptiform d... ORPHA:369837
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... OMIM:400045
Harlequin Ichthyosis
Dehydration ORPHA:457
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Sel... ORPHA:466943
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing, Multiple joint contractures OMIM:128100
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... OMIM:618733
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... OMIM:615501
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Dehydration, Oligohydramnios OMIM:208085
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... ORPHA:755
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Facial palsy, Tonic seizure... OMIM:615873
Nmda Receptor Encephalitis
Generalized-onset seizure, Neoplasm of the thymus, Opisthotonus, Choreoathetosis, Abnormal repeti... ORPHA:217253
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Segmental peripheral demyelin... ORPHA:255210
Methylmalonic Aciduria, Cblb Type
Lethargy, Dehydration OMIM:251110
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... ORPHA:447997
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Pelger-Huet Anomaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Abnormal myelination ORPHA:401835
Amish Lethal Microcephaly
Irritability, Optic atrophy, Bilateral tonic-clonic seizure ORPHA:99742
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
East Syndrome
Salt craving, Ataxia, Generalized-onset seizure, Inability to walk, Seizure, Hyperaldosteronism, ... ORPHA:199343
Wolcott-Rallison Syndrome
Ascites, Difficulty walking, Dehydration ORPHA:1667
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Irrit... OMIM:617799
Glass Syndrome
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... OMIM:612313
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Primary a... ORPHA:347
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Delayed myelination, Diabetes insipidus, Bilateral tonic-clonic seizure ORPHA:423479
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Difficulty walking, Truncal ataxia ORPHA:369840
Beta-Ketothiolase Deficiency
Ataxia, Edema, Dehydration ORPHA:134
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Cryptorchidism, Bilateral tonic-clonic seizure OMIM:618316
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Abnormal autonomic nervous... ORPHA:478029
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Ataxia, Edema, Dehydration ORPHA:20
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Optic atrophy, Bilateral tonic-clonic seizure OMIM:300578
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Methylmalonic Aciduria, Cbla Type
Lethargy, Dehydration OMIM:251100
Hermansky-Pudlak Syndrome 10
Delayed CNS myelination, Bilateral tonic-clonic seizure, EEG abnormality, Dystonia, Focal myoclon... OMIM:617050
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Opisthotonus, Irritability, Seizure, Myoclonic spasms, Peripheral... OMIM:252160
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchi... OMIM:619512
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Trigeminal Neuralgia
Cranial nerve compression, Depression, Allodynia, CNS demyelination, Peripheral demyelination ORPHA:221091
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Tremor, Optic atrophy, Seizure, Cogniti... OMIM:610505
Familial Renal Glucosuria
Dehydration ORPHA:69076
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Biotinidase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Optic neuropathy, Optic atrophy, Focal ... ORPHA:79241
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Bilateral tonic-clonic seizure OMIM:618165
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, A... OMIM:256500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Supernumerary nipple, Cryptorchidism, Inability to walk, Typical absence ... ORPHA:453504
Pituitary Carcinoma
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... ORPHA:300385
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Supernumerary nipple, Cryptorchidism, Inability to walk, Typical absence ... ORPHA:352665
Cholera
Lethargy, Dehydration ORPHA:173
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure, Athetosis, Primary hyperaldosteronism, Decreas... OMIM:615474
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologi... OMIM:614947
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Sandifer Syndrome
Abnormal posturing, Hiatus hernia ORPHA:71272
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Epileptic spasm, Exaggerated startle response, Dystonia, Abn... ORPHA:438213
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... ORPHA:466768
Dend Syndrome
Dehydration ORPHA:79134
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Seizure, Gait disturbance, ... ORPHA:488627
X Small Rings
Seizure, Premature ovarian insufficiency, Bilateral tonic-clonic seizure, Primary amenorrhea ORPHA:96201
Hallermann-Streiff Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Cryptorchidism, Optic disc coloboma, Choreoathetosis OMIM:234100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hirsutism, Dehydration ORPHA:90791
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Ataxia, Hydrops fetalis, Dehydration ORPHA:79282
Wilson Disease
Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Depression, Difficulty w... ORPHA:905
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Optic disc coloboma, Bilateral tonic-clonic seizure OMIM:600092
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Seizur... ORPHA:79644
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Cocaine Intoxication
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,... ORPHA:90068
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Oligomeganephronia
Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Lujo Hemorrhagic Fever
Resting tremor, Bilateral tonic-clonic seizure, Confusion, Hyperhidrosis, Seizure, Dysphagia, Men... ORPHA:319213
Renal Hypoplasia
Dehydration ORPHA:93101
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Cerebral dysmyelination, Decreased nerve conduction velocity, Pri... OMIM:261515
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Gen... OMIM:614756
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Sotos Syndrome
Bilateral tonic-clonic seizure, Aganglionic megacolon, Aggressive behavior, Tremor, Cryptorchidis... ORPHA:821
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Ataxia, Dehydration ORPHA:99885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios OMIM:263200
Pearson Marrow-Pancreas Syndrome
Lethargy, Hydrops fetalis, Dehydration OMIM:557000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to ... OMIM:620066
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Colchicine Poisoning
Alopecia, Dehydration ORPHA:31824
Pyruvate Carboxylase Deficiency
Tip-toe gait, Ataxia, Dehydration ORPHA:3008
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased serum insulin-like growth factor 1, Ataxia, Generalized non-motor (absence) seizure, De... ORPHA:77293
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure OMIM:301040
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short attention span, Delayed CNS myelination, Focal-onset seizure, Typical absence seizure, Opti... OMIM:617157
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... ORPHA:672
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait OMIM:618493
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Self-injurious b... OMIM:612474
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ataxia, Bilateral tonic-clonic seizure, Cryptorchidism, Inability to walk, Focal-onset seizure, I... ORPHA:459070
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, Abnormal myelination, C... ORPHA:280210
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Abnormalit... ORPHA:97278
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Seizure, Abnormal myelination OMIM:617333
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Neoplasm o... ORPHA:97261
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Cryptorchidism, Generalized non-motor (absence) seizure, Seizure, Abnormal circu... ORPHA:2636
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Cryptorchidism, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short attention span, Decreased serum insulin-like growth factor 1, Elevated circu... OMIM:608747
Machado-Joseph Disease Type 1
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276238
Machado-Joseph Disease Type 2
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276241
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Type I diabetes mellitus, Bilateral tonic-clonic seizure, Thyroiditis ORPHA:436159
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Shigellosis
Dehydration ORPHA:810
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Wolfram Syndrome 2
Diabetes mellitus, Optic neuropathy, Optic atrophy, Primary amenorrhea, Depression, Oligomenorrhea OMIM:604928
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Inguinal hernia, Abnormal dental enamel morphology, Dehydration, Fine hair, At... ORPHA:534
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Dehydration, Oligohydramnios ORPHA:96191
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Hydrocele testis, Seizure, Myoclon... OMIM:280000
Monosomy 18Q
Bilateral cryptorchidism, Choreoathetosis, Seizure, Abnormal myelination, Hypothyroidism, Seconda... ORPHA:1600
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Leukodystrophy OMIM:252010
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Bilateral tonic-clonic seizure, Increased circulating androgen concentration, ... ORPHA:2976
Pearson Syndrome
Corneal stromal edema, Ataxia, Hydrops fetalis, Dehydration ORPHA:699
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Bilateral tonic-clonic seizure, Leukodystrophy ORPHA:79124
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276244
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Generalized-onset seizure, Optic nerve hypoplasia, Optic atrophy, Generalized... ORPHA:500150
Gaucher Disease
Bilateral tonic-clonic seizure, Ataxia, Tremor, Dysphagia, Depression, Delayed puberty, Generaliz... ORPHA:355
Lysosomal Acid Lipase Deficiency
Ascites, Dehydration ORPHA:275761
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c... ORPHA:881
Infantile Nephropathic Cystinosis
Dehydration ORPHA:411629
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Aganglionic megacolon, Cryptorchidism, Inability to walk, Focal-onset s... ORPHA:2152
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa... OMIM:301044
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Edema, Dehydration, Nail dystrophy, Enamel hypoplasia ORPHA:79404
Ogden Syndrome
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Maternal diabetes, Crypto... OMIM:300855
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Vici Syndrome
Abnormal posturing, Hypopigmentation of hair, Albinism OMIM:242840
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios ORPHA:223
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Cockayne Syndrome Type 3
Optic disc pallor, Abnormal myelination, Progressive neurologic deterioration, Demyelinating peri... ORPHA:90324
Carpenter Syndrome 2
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Generalized non-motor (absence) s... OMIM:614976
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Polyhydramnios, Dehydration OMIM:601678
Juvenile Nephropathic Cystinosis
Dehydration ORPHA:411634
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Microsporidiosis
Dehydration ORPHA:2552
Cystinosis, Nephropathic
Hypopigmentation of hair, Dehydration OMIM:219800
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Marburg Hemorrhagic Fever
Lethargy, Dehydration ORPHA:99826
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Polyhydramnios, Dehydration OMIM:241200
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Aganglionic megacolon, Cryptorchidism, Inability to walk, Focal-onset seizure, ... ORPHA:261537
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Anorexia, Increased circulating ACTH level, Pu... ORPHA:97287
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Bartter Syndrome Type 4
Polyhydramnios, Dehydration ORPHA:89938
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Holoprosencephaly 14
EEG abnormality, Bilateral tonic-clonic seizure OMIM:619895
Hartsfield Syndrome
Cryptorchidism, Gonadotropin deficiency, Diabetes insipidus, Bilateral tonic-clonic seizure OMIM:615465
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
Oliver Syndrome
Bilateral tonic-clonic seizure, Supernumerary nipple ORPHA:2920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Aganglionic megacolon, Cryptorchidism, Inability to walk, Focal-onset seizure, ... ORPHA:261552
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Dehydration ORPHA:47159
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Hirsutism, Dehydration ORPHA:90794
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Difficulty walking, Gait ataxia ORPHA:457359
Cystic Fibrosis
Dehydration OMIM:219700
Cockayne Syndrome Type 1
Difficulty walking, Abnormality of temperature regulation, Ataxia, Gait disturbance ORPHA:90321
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Doors Syndrome
Adrenal hyperplasia, Bilateral tonic-clonic seizure, Optic atrophy, Congenital hypothyroidism, EE... ORPHA:79500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induced behavior, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induced behavior, ... ORPHA:353277
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Recurrent fever, Dysphagia OMIM:601559
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Truncal ataxia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, D... ORPHA:309854
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle ORPHA:37202
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Deeah Syndrome
Abnormality of temperature regulation, Self-mutilation, Dysphagia OMIM:619004
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation, Gait disturbance ORPHA:139417
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Depression, Decreased fertility, Abnormality of the menstrua... ORPHA:285
Malakoplakia
Orchitis, Abnormality of the menstrual cycle ORPHA:556
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Premature thelarche, Cryptorchidism, Congenital ... OMIM:147920
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Degcags Syndrome
Oral-pharyngeal dysphagia, Cryptorchidism, Chordee, Abnormal myelination, Choking episodes OMIM:619488
Pmm2-Cdg
Hypogonadotropic hypogonadism, Ataxia, Elevated circulating growth hormone concentration, Delayed... ORPHA:79318
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Heat intolerance ORPHA:2273
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Dilated third ventricle, Abnormal myelination ORPHA:434179

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 Gabbr1

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 Gabbr1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Widespread Inhibition, Antagonism, and Synergy in Mouse Olfactory Sensory Neurons In Vivo. Cell reports (June 2020) Gabbr1tm1c(KOMP)Wtsi Gabbr1tm1a(KOMP)Wtsi 32610120
Single-cell profiling reveals heterogeneity and functional patterning of GPCR expression in the vascular system. Nature communications (June 2017) Gabbr1tm1a(KOMP)Wtsi PMC5481776

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
Gabbr1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gabbr1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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