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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.

The table below shows human diseases associated to Gabbr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Optic nerve hypoplasia OMIM:620502

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
Depression, Mania 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
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Severe Primary Trimethylaminuria
Depression, Negative affectivity, Obsessive-compulsive trait, Emotional lability, Aggressive beha... ORPHA:468726
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Enhanceme... OMIM:615127
Schizophrenia 15
Hyperactivity OMIM:613950
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Obsessive-Compulsive Disorder
Compulsive behaviors, Skin-picking, Depression, Collectionism OMIM:164230
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... OMIM:254770
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera... 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
Continuous spike and waves during slow sleep, Small for gestational age, EEG with centrotemporal ... OMIM:245570
Centralopathic Epilepsy
Nocturnal seizures, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wit... OMIM:117100
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... OMIM:619970
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, EEG abnormality OMIM:617643
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, EEG with frontal focal spike waves, Focal hemiclonic seizure, EEG with... ORPHA:725
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613722
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Interictal... OMIM:615400
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... OMIM:600669
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:616056
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Lennox-Gastaut Syndrome
Mental deterioration, Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Irr... ORPHA:2382
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Continuous spike and waves during slow sleep, Seizu... ORPHA:163721
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo... OMIM:607631
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... OMIM:617391
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Action tre... OMIM:617665
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Bilateral tonic-cloni... OMIM:616187
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, E... OMIM:614018
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Simple febrile seizure, Hypsar... ORPHA:98820
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired awareness sei... ORPHA:599373
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 31A
Self-injurious behavior, Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spas... OMIM:616346
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Aggressive... OMIM:619157
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... OMIM:266100
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Atonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hy... OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Lissencephaly 10
Depression, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... OMIM:618873
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inabi... ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Generalized myoclonic seizure, Focal impaired awareness seizure... ORPHA:330050
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617171
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... OMIM:616421
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t... OMIM:616409
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizure, Bilateral ... OMIM:608105
Myoclonic Epilepsy Of Infancy
Mental deterioration, EEG with irregular generalized spike and wave complexes, Generalized non-mo... ORPHA:86909
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Infantile ... ORPHA:485350
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, Seizure, EEG a... OMIM:608636
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Myoclonus, Gait ataxia, Tremor, EEG with polyspike wave complexes,... OMIM:618587
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Delayed CNS myelinat... OMIM:618396
Dravet Syndrome
Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Genera... OMIM:607208
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei... OMIM:617904
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, D... OMIM:271980
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gai... OMIM:617810
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Clonic seizure, B... OMIM:619605
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Hypsarrhythmia, Bilater... OMIM:616139
Developmental Delay With Or Without Epilepsy
EEG with frontal focal spikes, Myoclonic seizure, Atonic seizure, Generalized non-motor (absence)... OMIM:620540
Dravet Syndrome
Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Cognitive impairment, Photos... ORPHA:33069
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure OMIM:617709
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure, Irritability, Aggressive behavior, Ataxia, Tors... ORPHA:98811
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Seizure, Confusion, Gait ataxia, Emotional lability, Tremor, My... OMIM:615362
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Continuous spike and waves during slow sleep, Atonic seizure, Generalized non-... OMIM:619913
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... ORPHA:3006
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Fever, Waddling gait ORPHA:168621
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Delayed CNS myelination, Hypsarrhythm... OMIM:617711
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive ... ORPHA:168491
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, Depression, EEG with centrotemporal foca... ORPHA:1945
Developmental And Epileptic Encephalopathy 109
Crouch gait, Myoclonic seizure, Typical absence seizure, Gait ataxia, Myoclonus, Focal hemiclonic... OMIM:620145
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG with ... OMIM:613855
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality, Seizure OMIM:612621
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-motor (a... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, 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
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Seizure, Bilate... OMIM:609446
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Focal clonic seizure, Tonic seizu... ORPHA:140927
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Myoclonus, Irritability, Bilateral tonic-clonic seizure, Multifocal epileptiform d... OMIM:609056
Pontiac Fever
Fever ORPHA:99748
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Depression, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dementia OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Falls, Action myoclonus, Limb ataxia, Myoclonus, EEG with p... OMIM:616230
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic... OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Mental deterioration, Depression, Myoclonus, Status epilepticus without prominent motor symptoms,... OMIM:204300
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Epileptic spasm, Focal he... ORPHA:293181
Rasmussen Subacute Encephalitis
Hemidystonia, Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitiv... ORPHA:1929
Yoon-Bellen Neurodevelopmental Syndrome
Failure to thrive, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Generalized ... OMIM:619701
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc... ORPHA:79137
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... 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
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, EEG abnormality, Focal tonic sei... OMIM:617106
Pyknoachondrogenesis
Stillbirth OMIM:265880
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Seizure, Generalized non-motor (absence) seizure, Delayed puberty, Hyperinsuli... OMIM:616033
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Seizure, Streak ovary, Elevated circulating folli... OMIM:614129
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, Focal impaired awareness seizure, Seizure, Abnormality of somatose... ORPHA:268947
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-c... OMIM:617862
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Oculogyric crisis, Generalized myoclonic seizure, Typical absence seizur... ORPHA:208447
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... OMIM:619191
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action... ORPHA:457205
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Generalized non-motor (absence) seizure, Fasting hy... ORPHA:35878
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, EEG abnormality, Bilateral tonic-clonic seizure, Ataxia, Dysto... OMIM:617836
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Tonic seizure, Gait disturbance, Hyperactivity... OMIM:618090
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Atypical absence seizure, Generalized my... OMIM:617771
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Focal impaired awareness seizure, Atonic seizure, Seizure, Aggressive be... ORPHA:382
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Generalized non-motor (absence) seizure, Seizure, Focal clonic seizure, Epileptic ... OMIM:616211
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Cognitive impairment, Bilateral tonic-clonic seizure, Pseudobulbar para... OMIM:300388
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Myoclonic seizure, Generalized myoclonic seizure, Myoclonic status epilepticus, Tr... OMIM:611726
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton... OMIM:618856
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Generalized-onset seizu... OMIM:617976
Epilepsy, Familial Adult Myoclonic, 2
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:607876
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, EEG with continuous slow activity, Memory impairment,... ORPHA:275864
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Seizure, Inability to walk, Hypsarrhythmia, Delayed myelination, Motor stereotypy,... OMIM:617830
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure... OMIM:301020
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Limb ataxia, Gait ataxia, EEG abnormality, Bilateral tonic-clonic seizure, Ataxia OMIM:614322
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 108
Small pituitary gland, Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness... OMIM:620115
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Focal-... ORPHA:289266
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali... ORPHA:411986
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth... OMIM:617166
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Bruxism, Epileptic spasm, Myoclonus, Stereotypical... OMIM:618497
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Inability to walk, Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Unst... OMIM:620317
Lafora Disease
Mental deterioration, Focal sensory seizure with visual features, Emotional lability, Hypsarrhyth... ORPHA:501
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizure,... ORPHA:561854
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Angelman Syndrome
Broad-based gait, Polyphagia, Ataxia, Atypical absence seizure, Optic disc pallor, Dysphagia, Cer... ORPHA:72
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Multifocal epileptiform discharges, Myoclonic absence seizure, Myocloni... OMIM:618596
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy, Delayed myelination OMIM:613886
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Irritability, CNS demyelination, Bilateral tonic-clonic seizure, Dystonia OMIM:618237
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Cryptorchidism, Self-mutilation, Aggressive behavior, Hyperac... OMIM:604317
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Lipoid Proteinosis Of Urbach And Wiethe
Aggressive behavior, Memory impairment, Seizure, Generalized non-motor (absence) seizure OMIM:247100
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Leukodystrophy, Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:226750
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Attention deficit hyperactivity disorder, Simple febrile seizur... OMIM:617935
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Short attention span, Aggressive behavior, Hype... OMIM:300558
Cyclic Neutropenia
Fever OMIM:162800
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Gait ataxia, Tremor, Irritability, Dysmetria, Bilateral tonic-c... OMIM:618093
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Inability... OMIM:618917
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atoni... OMIM:615859
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Memory impairment, Seizure, Emotional lability, Cerebral hypomyelination, Gait dis... OMIM:603896
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Inability to walk, Epileptic spasm, Irritability, Status epilepticus without p... OMIM:617105
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Severe Canavan Disease
Optic atrophy, Seizure, Oral-pharyngeal dysphagia, Inability to walk, Irritability, Bilateral ton... ORPHA:314911
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Failure to thrive, Bilateral tonic-clonic seizure OMIM:617082
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Recurrent hand fl... ORPHA:544254
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Depression, Focal T2 hyperintense thalamic lesion, Bilateral tonic-clonic seizure ... ORPHA:254881
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Seizure, Decreased response to growth hormone sti... OMIM:300845
Severe Neonatal-Onset Encephalopathy With Microcephaly
Multifocal epileptiform discharges, EEG with focal slow activity, Seizure, Bilateral tonic-clonic... ORPHA:209370
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Focal impaired awareness seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Statu... OMIM:613970
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Seizure, Myoclonus, Loss of ambulation, Bilateral tonic-clonic seizure, Dementia, ... OMIM:204200
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Infantile spasms, Delayed CNS myelination, Bilateral tonic-clonic seizur... OMIM:617493
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Seizure, Interictal EEG abnormality, Focal T2 hyperintense thalamic lesion, Emotional... ORPHA:79264
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Myoclonic seizure, CNS hypomyelination, Febrile seizure (within the age range of 3... OMIM:618012
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Macrophagic Myofasciitis
Fever ORPHA:592
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Hypsarrhythmia, Dysphagia, EEG with generalized epilepti... OMIM:616973
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Bilateral tonic-clonic s... OMIM:617290
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Mantle Cell Lymphoma
Fever, Anorexia ORPHA:52416
Dystonia 22, Juvenile-Onset
Mental deterioration, Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, To... OMIM:620453
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, Bilateral tonic-clonic ... ORPHA:352582
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Cryptorchidism, Delayed CNS m... OMIM:617201
Muscular Dystrophy, Congenital, With Or Without Seizures
Mental deterioration, Type I diabetes mellitus, Myoclonic seizure, Generalized non-motor (absence... OMIM:620166
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Dehydration ORPHA:28
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Chronic Hiccup
Dehydration ORPHA:396
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure, Large for gestational age, Obesity, Truncal obesity OMIM:240900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Seizure, Focal ... ORPHA:3077
Hyperprolinemia Type 2
Depression, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... ORPHA:79101
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Falls, Seizure, Action tremor, Impaired tandem gait, Gait disturbance, Delayed CNS myelination, B... OMIM:300423
Peho-Like Syndrome
Myoclonus, Hypsarrhythmia, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Dk1-Cdg
Failure to thrive, Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG... ORPHA:91131
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Bilateral tonic-clonic seizure, Ataxia, Demyelinating peripheral neuropathy, Athet... OMIM:614559
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Bilateral tonic-clonic seizure, Ataxia, Torticollis, Dystonia OMIM:618425
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Generalized myoclonic seizure, Atonic seizure, Seizure, Difficul... ORPHA:79097
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:301058
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, Focal autonomic seizure, Focal aware motor seizure, EEG... ORPHA:363558
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl... OMIM:619854
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Focal-onset seizure OMIM:618760
Alternating Hemiplegia Of Childhood 1
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Diminished ability to concentrate, Delayed CNS myelination, Motor tics, ... OMIM:620688
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Delayed CNS myelination, Bilateral tonic-clonic seizure, Dys... OMIM:619301
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, EEG with generalized epileptiform discharges, Inappro... OMIM:619827
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure, Attention deficit hyperactivity disorder, Delayed myelination, ... ORPHA:576283
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Emotional lability, Opisthotonus, Delayed CNS myelination, Ataxia, Motor stereotypy, Clonic seizu... OMIM:619580
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Hypogonadism, Epileptic spasm, Irritability, Cerebral hy... ORPHA:79351
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Myoclonic absence seizure, Seizure, Leukodystrophy, Delayed CNS myelination, Ataxi... OMIM:616034
Harel-Yoon Syndrome
Optic atrophy, Generalized non-motor (absence) seizure, Inability to walk, Ataxia, Dystonia OMIM:617183
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Dysmetria, Bilateral tonic-clonic seizure, Atax... OMIM:618170
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Delayed CNS myelination, Bilateral tonic-clonic seizure, Dys... OMIM:619302
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Myoclonus, Dysmetria, Spastic ataxia, Cognitive impairment, Bilate... OMIM:614487
Sarcosinemia
Optic atrophy, Emotional lability, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Gait imbalance, Gait ataxia, Bilateral tonic-clonic seizure, EEG with focal spikes, Seve... ORPHA:488635
Lissencephaly 3
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure, Ataxia OMIM:611603
Early Infantile Epileptic Encephalopathy
Hypsarrhythmia, Choreoathetosis, Self-injurious behavior, Precocious puberty, Generalized non-mot... ORPHA:1934
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive trait, Low ... ORPHA:363686
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, EEG with burst suppression, Tremor, Generalized tonic seizure, Cerebral hypomyel... OMIM:612164
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio... ORPHA:168782
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Developmental And Epileptic Encephalopathy 37
Myoclonus, Focal hemiclonic seizure, Gait disturbance, Bilateral tonic-clonic seizure, Multifocal... OMIM:616981
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Inf... ORPHA:457351
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618187
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Myoclonus, Dysmetria, EEG abnormality, Bilateral tonic-clonic seiz... ORPHA:313772
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Recurrent hand flapping, Myoclonus, A... OMIM:617600
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Perrault Syndrome 1
Gait ataxia, Primary amenorrhea, Ataxia, Increased circulating gonadotropin level, Intention tremor OMIM:233400
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Generalized non-motor (absence) seizure, Infantile spasms, Startle-... ORPHA:467166
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Seizure, Gait imbalance, EEG with focal epileptiform discharges, Bilateral toni... ORPHA:98795
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Focal myoclonic seizure, Seizure, Difficulty walking, Puberty and gonadal disorders, Dela... ORPHA:464282
Cholangiocarcinoma
Fever, Anorexia ORPHA:70567
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal dystonia, Paroxysm... OMIM:602066
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Self-mutilation, Polyphagia, Aggressive behavior, Focal ... OMIM:616521
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Myoclonus, Attention deficit hyperactivity disorder, Mot... OMIM:619725
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Abnormal myelination, Hand tremor ORPHA:401840
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, EEG abnormality, Bila... ORPHA:529665
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia OMIM:203740
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia ORPHA:2023
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Seizure, Decreased response to growth hormone stimulation test, Decreased testicular ... ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Generalized non-motor (absence) seizure, Hostility, Inability to walk, Bruxism, Seizu... OMIM:300260
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizur... OMIM:618067
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... ORPHA:168563
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Abnormality of the menstrual cycle, Absence of se... OMIM:400044
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Tay-Sachs Disease
Precocious puberty, Optic atrophy, Memory impairment, Depression, Typical absence seizure, Seizur... ORPHA:845
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Atonic seizure, Generalized non-motor (absence) seizure, Bulimia, Bruxism... OMIM:300912
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Long eyelashes, Dehydration OMIM:616069
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Febrile Seizures, Familial, 9
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... OMIM:611634
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Delayed CNS myelination, Hyperactivity, Seizure OMIM:609924
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Myoclonic seizure, Inability to walk, Epileptic spasm, Delayed CNS myelinatio... OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Congenital Disorder Of Glycosylation, Type Iiy
Delayed CNS myelination, Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Den Hoed-De Boer-Voisin Syndrome
Hypsarrhythmia, Ataxia, Dysphagia, Motor stereotypy, Generalized non-motor (absence) seizure, Ina... OMIM:619229
Liang-Wang Syndrome
Dystonia, Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Mental deterioration, Pseudobulbar paralysis, Emotional lability, Irritability, Aggressive behavi... ORPHA:199354
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Seizure, Inability to walk, Myoclonus, Irritability, Loss of ambulation, Gait dist... OMIM:618241
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Paroxysmal dys... ORPHA:98784
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Failure to thrive, Seizure, EEG abnormality, Bilate... ORPHA:488613
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Classic Galactosemia
Ataxia, Mental deterioration, Depression, Seizure, Postural tremor, Gait imbalance, Action tremor... ORPHA:79239
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Mental deterioration, Abnormal temper tantrums, EEG with generalized epilepti... ORPHA:163681
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Febrile seizure (within... ORPHA:3044
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Generalized-onset seizure, Myoclonus, Tremor, Dementia, Facial palsy, Dysphag... OMIM:159950
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... OMIM:620292
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Depression, Difficulty walking, Amenorrhea, Ataxia, Premature ovarian insufficiency OMIM:619425
Central Diabetes Insipidus
Lethargy, Dehydration ORPHA:178029
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Optic atrophy, Seizure, Difficulty walking, Myoclonus, Tremor, Attention de... ORPHA:442835
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, EEG with spike-wa... ORPHA:64280
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
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Developmental And Epileptic Encephalopathy 110
Bruxism, Continuous spike and waves during slow sleep, Focal impaired awareness hemiclonic seizur... OMIM:620149
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi... ORPHA:99429
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Bilateral tonic-clonic seizure, Ataxia, Multifocal epileptiform discharges,... OMIM:272300
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Seizure, Hypogonadism, Panhypopituitarism... OMIM:262600
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Choreoathetosis, Dehydration, Ataxia ORPHA:27
Transient Neonatal Diabetes Mellitus
Dehydration, Umbilical hernia ORPHA:99886
Nicolaides-Baraitser Syndrome
Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Cryptorchidism, Abnormal testi... ORPHA:3051
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Periodic fever, Fever OMIM:617772
Meningioma
Increased circulating prolactin concentration, Hemifacial spasm, Difficulty walking, Emotional la... ORPHA:2495
Hypercalcemia, Infantile, 1
Lethargy, Dehydration OMIM:143880
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, EEG with generalized slow activity, Tonic seizure, Hypsarrhythmia, Bilateral t... OMIM:619983
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Generalized myoclonic seizure, Atonic seizure, Fatigable weakness of speech muscle... ORPHA:404454
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Choreoathetosis, Dehydration ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Focal motor seizure, Generalized dystonia, Irritability OMIM:618235
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Absence seizure with eyelid myoclonia, Ataxia, Eyelid my... OMIM:613839
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Interictal EEG abnormality, Infantile spasms, Irritability, Bilateral tonic-clonic seizu... ORPHA:544503
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Sandhoff Disease
Myoclonic seizure, CNS hypomyelination, Progressive psychomotor deterioration, Hypohidrosis, Orth... OMIM:268800
47,Xyy Syndrome
Seizure, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, Hype... ORPHA:8
Isovaleric Acidemia
Lethargy, Dehydration OMIM:243500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines OMIM:301076
Familial Renal Glucosuria
Dehydration ORPHA:69076
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Mental deterioration, Optic atrophy, Generalized non-motor (absence) seizure, Seizure, Focal-onse... ORPHA:395
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Generalized non-motor (absence) seizure, Attention deficit hyperact... ORPHA:435638
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Canavan Disease
Optic atrophy, Epileptic spasm, Opisthotonus, Hypsarrhythmia, CNS demyelination, Bilateral tonic-... OMIM:271900
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure OMIM:615031
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Seizure, Focal clonic seizure, Loss of ambulation, Bilateral tonic-clonic seizure ... OMIM:617933
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Action tremor, Dysmetria, Gait disturbance, Bilateral tonic-clonic seizure, At... ORPHA:93952
Ring Chromosome 21 Syndrome
Seizure, Azoospermia, Amenorrhea, Bilateral tonic-clonic seizure with generalized onset, Gait dis... ORPHA:1445
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure, Episodic ataxia ORPHA:53583
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clon... OMIM:600721
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, EEG with spike-wave complexes, EEG w... ORPHA:95232
Perrault Syndrome 4
Decreased serum estradiol, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Cognitive impair... OMIM:615300
Spinocerebellar Ataxia Type 10
Depression, Dysdiadochokinesis, Focal impaired awareness seizure, EEG with generalized epileptifo... ORPHA:98761
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Abnormal motor evoked potentials, Difficulty walking, Head tremor, Type II diabetes mellitus, Cog... ORPHA:412057
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis ORPHA:726
Fatty Acid Hydroxylase-Associated Neurodegeneration
Mental deterioration, Optic atrophy, Depression, Falls, Generalized dystonia, Loss of ambulation,... ORPHA:329308
Chronic Recurrent Multifocal Osteomyelitis 3
Fever OMIM:259680
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Knee flexion contracture, Hirsutism, Ca... OMIM:214150
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, Seizure, I... OMIM:620224
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, EEG with generalized sharp slow waves, Inability to walk, EEG with focal sharp waves, In... ORPHA:79243
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Bilateral tonic-clonic seiz... OMIM:619911
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Delayed CNS myelination... OMIM:615802
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggressive behav... OMIM:610042
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
D-Glyceric Aciduria
Seizure, Focal clonic seizure, Myoclonus, Opisthotonus, Tongue thrusting, Hypsarrhythmia, Delayed... OMIM:220120
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Male sexual dysfunction, Abnormal circulating est... ORPHA:90797
Enteric Anendocrinosis
Dehydration ORPHA:83620
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Spastic gait, Limb tremor, Abnormal myelination ORPHA:401820
46,Xx Gonadal Dysgenesis
Ataxia, Decreased serum estradiol, Streak ovary, Decreased fertility, Delayed puberty, Primary am... ORPHA:243
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Huntington Disease-Like 1
Abnormal posturing, Gait ataxia, Dysmetria, Gait disturbance, Bradykinesia ORPHA:157941
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Febrile s... OMIM:614207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Progressive Supranuclear Palsy
Blepharospasm, Depression, Memory impairment, Falls, Emotional lability, Tremor, Irritability, Co... ORPHA:683
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Myoclonic seizure, Myoclonus, Tonic seizure, Hyperactivity, Bilateral tonic-clonic... OMIM:617281
Reticular Dysgenesis
Dehydration ORPHA:33355
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Myoclonic seizure, Seizure, Inability to walk, Bruxism, Bilateral tonic-clonic seizure OMIM:615716
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Focal sensory seizure with visual features, Generalized non-motor ... OMIM:254780
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Memory impairm... ORPHA:251623
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Focal myoclonic seizure, Seizure, Difficulty walking, Inability to walk, Irr... ORPHA:481152
Bilateral Polymicrogyria
Mental deterioration, Central hypothyroidism, Seizure, Pseudobulbar paralysis, Generalized-onset ... ORPHA:268940
Dpm1-Cdg
Ataxia, Optic atrophy, Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic s... ORPHA:79322
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:615398
Sandhoff Disease, Infantile Form
Myoclonic seizure, CNS hypomyelination, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exagg... ORPHA:309155
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Delayed CNS myelination, Seizure OMIM:620655
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic sei... ORPHA:480864
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress... OMIM:618010
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Seizure, Decreased response to... ORPHA:91354
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Carnitine Deficiency, Systemic Primary
Lethargy, Dehydration OMIM:212140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Adrenal hype... ORPHA:95699
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Truncal ataxia, Bilateral tonic-clonic seizure, Waddling gait ORPHA:369840
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... ORPHA:79444
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma... ORPHA:251510
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Malignant Hyperthermia, Susceptibility To, 5
Malignant hyperthermia, Fever OMIM:601887
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Tip-toe gait ORPHA:216866
Kleefstra Syndrome Due To 9Q34 Microdeletion
Depression, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Cryptorchidism, Ir... ORPHA:96147
Familial Cold Urticaria
Dehydration ORPHA:47045
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Adrenal calcific... ORPHA:289548
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Absence of secon... ORPHA:168558
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth OMIM:617468
Japanese Encephalitis
EEG abnormality, Pill-rolling tremor, Decreased motor nerve conduction velocity, Abnormal thalamu... ORPHA:79139
Melas
Optic atrophy, Type I diabetes mellitus, Memory impairment, Depression, Mixed demyelinating and a... ORPHA:550
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Spa... ORPHA:634
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Fatigable weakness, Fatigable weak... ORPHA:42
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
Chromosome 22Q13 Duplication Syndrome
Short attention span, Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, B... OMIM:615538
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Generalized-onset seizure, Delayed CNS myelination, Bilateral tonic-clonic sei... OMIM:619835
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Hereditary Central Diabetes Insipidus
Polydipsia, Fever ORPHA:30925
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Ataxia OMIM:560000
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Inability to walk, Gait ataxia, Tremor, Dysmetria, Bilateral ton... OMIM:617988
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Propionic Acidemia
Lethargy, Dehydration OMIM:606054
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Seizure, Cognitive impairment, Exaggerate... ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges,... OMIM:616672
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev... ORPHA:79443
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Focal myoclonic seizure, Seizure, Hyperaldosteronism, Adrenal hyperplasia, Abnormal c... ORPHA:369929
Intellectual Developmental Disorder, Autosomal Dominant 22
Bruxism, Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing OMIM:612337
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Dementia, Diabetes mellitus, Bilateral tonic-clonic seizure OMIM:540000
Alternating Hemiplegia Of Childhood
Ataxia, Oral-pharyngeal dysphagia, Seizure, Status epilepticus, Emotional lability, Tremor, Aggre... ORPHA:2131
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Myoclonic seizure, Generalized non-... OMIM:620330
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Lead Poisoning
Memory impairment, Depression, Decreased male libido, Reduced sperm motility, Seizure, Abnormalit... ORPHA:330015
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Ataxia, Athetosis... OMIM:619435
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Epilepsia partialis continua, Difficulty walking, Gait ataxia, Myoclonus, CNS demy... OMIM:620451
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Seizure, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitar... ORPHA:91351
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Confusion, Gait ataxia, Dysmetria, Tremor, Bilateral tonic-clonic seizure, Focal... OMIM:602481
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Progressive cerebellar ataxia ORPHA:98757
Autosomal Agammaglobulinemia
Cellulitis, Dehydration ORPHA:33110
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Lamellar Ichthyosis
Sparse hair, Dehydration, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Seizure, Inability to walk, Cognitive impairment, Facial... ORPHA:258
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Retrograde ejaculation, Seizure, Orthostatic hypoten... OMIM:223360
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Myoclonic seizure, Head-banging, Generalized non-motor (absence) seizure, Seizure, Epileptic spas... OMIM:620455
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Seizure, Hypogonadism, Hypopitu... ORPHA:300373
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Inguinal hernia OMIM:614857
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Gait ataxia, Gait disturbance, Bradykinesia, Titubation ORPHA:225147
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Generalized myoclonic seizure, Myoclonic seizure, Seizure, Hypogonadism, Generaliz... OMIM:614231
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Seizure, Ectopic anterior pituitary gla... ORPHA:95494
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Cryptorchidi... OMIM:300869
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Developmental And Epileptic Encephalopathy 95
Seizure, Inability to walk, EEG with burst suppression, Inappropriate laughter, Cryptorchidism, G... OMIM:618143
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Seizure ORPHA:85179
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, CNS hypomyelination, Seizure, Inability to walk, Epileptic spasm, Generalized toni... OMIM:617193
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Dysphagia, Focal im... OMIM:618325
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure, Optic nerve hypoplasia OMIM:618381
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Pica, Seizure, Generalized non-motor (absence) seizure OMIM:617360
Weaver Syndrome
Seizure, Generalized non-motor (absence) seizure, Cryptorchidism, Polyphagia, Delayed CNS myelina... OMIM:277590
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Head-banging, Bilateral tonic-clonic seizure OMIM:619356
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Cryptorchidism, Chordee, Ataxia, Dysphagia, Posterior pituitary hypoplasia, Dec... ORPHA:268261
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination, Seizure ORPHA:352682
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Bilateral tonic-clonic seizure, Supernumerary nipple OMIM:616083
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic s... ORPHA:496641
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
Cystinosis
Gait disturbance, Dehydration ORPHA:213
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Dehydration OMIM:251000
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Polyhydramnios, Flexion contracture, Choreoathetosis, Dehydration OMIM:616271
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor ORPHA:401830
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the a... ORPHA:513456
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Supernumerary nipple, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave ... ORPHA:247262
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Aganglionic megacolon, Bilateral tonic-clonic seizure, Focal-onset seizure, Opt... ORPHA:171680
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Myoclonus, Cryptorchidism, Self-mutilation, Aggressive behavior, Bilateral tonic-clonic ... ORPHA:364028
Harlequin Ichthyosis
Dehydration ORPHA:457
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:400045
46,Xx Sex Reversal 2
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:278850
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Generalized-onset seizure... OMIM:620024
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing, Multiple joint contractures OMIM:128100
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (withi... ORPHA:466943
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Generalized non-motor (absence) seizure, EEG with generalized sharp slow wave... ORPHA:369837
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Infantile ... OMIM:618733
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Bilateral tonic-clonic seizure, Optic disc pallor, Diabete... ORPHA:423479
African Trypanosomiasis
Seizure, Abnormality of the menstrual cycle, Difficulty walking, Akinesia, Abnormality of circula... ORPHA:3385
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:617253
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Arthrogryposis multiplex congenita, Dehydration OMIM:208085
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Seizure, Infantile spasms, Gait ataxia, Bilateral tonic-clonic seizure, Ataxia, De... ORPHA:255210
Leydig Cell Hypoplasia
Male hypogonadism, Absence of secondary sex characteristics, Breast aplasia, Hypoplasia of the Le... ORPHA:755
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Neonata... OMIM:615501
Amish Lethal Microcephaly
Optic atrophy, Bilateral tonic-clonic seizure, Irritability ORPHA:99742
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Irritability, Cerebral hypomyelination, Hypsarrhythmia, Dysphagia... ORPHA:447997
Warburg Micro Syndrome 3
Optic atrophy, Myoclonic seizure, Inability to walk, Decreased testicular size, Bilateral tonic-c... OMIM:614222
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure OMIM:169400
East Syndrome
Polydipsia, Seizure, Difficulty walking, Inability to walk, Generalized-onset seizure, Hyperaldos... ORPHA:199343
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Decreased circulating T4 concentration... ORPHA:99832
De Sanctis-Cacchione Syndrome
Mental deterioration, Optic atrophy, Leukodystrophy, Bilateral cryptorchidism, Scissor gait, Bila... OMIM:278800
Wolcott-Rallison Syndrome
Ascites, Difficulty walking, Dehydration ORPHA:1667
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Primary amenorrhea, Increased circulating gonadotropin l... ORPHA:347
Beta-Ketothiolase Deficiency
Dehydration, Edema, Ataxia ORPHA:134
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Fever OMIM:614212
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Decreased response to growth hormone stimulation test, Bruxism,... OMIM:615873
Kinsship Syndrome
Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Moto... OMIM:619297
Methylmalonic Aciduria, Cblb Type
Lethargy, Dehydration OMIM:251110
Glass Syndrome
Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Frequen... OMIM:612313
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocorticotropic hormon... OMIM:615926
Intellectual Developmental Disorder, Autosomal Dominant 54
Atonic seizure, Seizure, Inability to walk, Bruxism, Anhidrosis, Irritability, Aggressive behavio... OMIM:617799
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Seizure, Hypopituitarism, Polyp... OMIM:300942
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Bilateral tonic-clonic seizure, Myoclonic spasms, Abnormal autonomic nervous sy... ORPHA:478029
Ziegler-Huang Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p... OMIM:620501
Nmda Receptor Encephalitis
Ovarian teratoma, Opisthotonus, Abnormal sudomotor regulation, Delirium, Mania, Motor stereotypy,... ORPHA:217253
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Hand tremor ORPHA:401835
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618419
Methylmalonic Aciduria, Cbla Type
Lethargy, Dehydration OMIM:251100
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Dehydration, Edema, Ataxia ORPHA:20
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Generalized non-motor (absence) seizure, Dec... ORPHA:293978
Generalized Pseudohypoaldosteronism Type 1
Dehydration ORPHA:171876
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact... ORPHA:466950
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Delayed CNS myelination, EEG abnormality, Bilateral tonic-clonic seizure... OMIM:617050
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Molybdenum Cofactor Deficiency, Type B
Seizure, Peripheral demyelination, Irritability, Opisthotonus, Bilateral tonic-clonic seizure, My... OMIM:252160
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Trigeminal Neuralgia
Depression, Cranial nerve compression, Peripheral demyelination, CNS demyelination, Allodynia ORPHA:221091
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... OMIM:613038
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Seizure, Tremor, Cognitive impairment, Bilateral tonic-clonic seizure, Ataxia, Dys... OMIM:610505
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Biotinidase Deficiency
Optic atrophy, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal motor sei... ORPHA:79241
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Bone Marrow Failure Syndrome 5
Testicular atrophy, Bilateral tonic-clonic seizure, Hypogonadism OMIM:618165
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Angioedema, Hypernatremic dehydration, Brittle hair, Sparse s... OMIM:256500
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased respons... ORPHA:90695
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu... OMIM:620504
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Non-o... ORPHA:2232
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Decreased circulating renin level, Primary hyperaldosteronism, Bilateral tonic... OMIM:615474
Cholera
Lethargy, Dehydration ORPHA:173
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure, Neonatal death OMIM:620300
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Sandifer Syndrome
Hiatus hernia, Abnormal posturing ORPHA:71272
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Optic atrophy, Myoclonic seizure, Frequent temper tantrums, Cryptorchidi... OMIM:619512
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Seizure, Tremor, Cognitive impairment, Ataxia, Progressive neurologic deterioratio... OMIM:614947
Dend Syndrome
Dehydration ORPHA:79134
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Cryptorchidism, Bilateral tonic-clonic seizure OMIM:300578
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
X Small Rings
Bilateral tonic-clonic seizure, Premature ovarian insufficiency, Seizure, Primary amenorrhea ORPHA:96201
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue tremor, Tip-toe gait, Seizure, Mixed demyelinating and axonal polyneuropathy, Difficulty w... ORPHA:466768
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure, Supernumerary nipple, Inability to walk, Bruxism, Cryptorchidis... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure, Supernumerary nipple, Inability to walk, Bruxism, Cryptorchidis... ORPHA:352665
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Difficulty walking, Gait imbalance, Aggressive behavior, Gait disturbance, Dysphagia, Bi... ORPHA:488627
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration, Hirsutism ORPHA:90791
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Wolfram Syndrome 2
Optic atrophy, Depression, Oligomenorrhea, Primary amenorrhea, Diabetes insipidus, Optic neuropat... OMIM:604928
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Dehydration OMIM:246450
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Broad-based gait, Bilateral tonic-clonic seizure on awakening, Seizure, Inabi... ORPHA:438213
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Seizure, Inability to walk, Cryptorchidism, Pancreatitis, Hypsarrhythmia... OMIM:620371
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Hydrops fetalis, Dehydration, Ataxia ORPHA:79282
Wilson Disease
Depression, Abnormality of the menstrual cycle, Difficulty walking, Aggressive behavior, Hypersex... ORPHA:905
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Optic disc coloboma OMIM:600092
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Arthrogryposis multiplex congenita, Dehydration, Ataxia ORPHA:99885
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Cocaine Intoxication
Seizure, Focal-onset seizure, Tremor, Hyperhidrosis, Bilateral tonic-clonic seizure, Delirium, At... ORPHA:90068
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Dehydration OMIM:263200
Oligomeganephronia
Congenital diaphragmatic hernia, Dehydration ORPHA:2260
Lujo Hemorrhagic Fever
Mental deterioration, Resting tremor, Seizure, Confusion, Hyperhidrosis, Bilateral tonic-clonic s... ORPHA:319213
Renal Hypoplasia
Dehydration ORPHA:93101
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Hallermann-Streiff Syndrome
Optic disc coloboma, Cryptorchidism, Hyperactivity, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:234100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Seizure, Focal pancre... ORPHA:79644
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hand tremor, Seizure, Gait ataxia, Dysmetria, Aggressive behavior, Attention de... OMIM:614756
D-Bifunctional Protein Deficiency
Seizure, Decreased nerve conduction velocity, Primary adrenal insufficiency, Bilateral tonic-clon... OMIM:261515
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Pearson Marrow-Pancreas Syndrome
Lethargy, Hydrops fetalis, Dehydration OMIM:557000
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... OMIM:219090
Pyruvate Carboxylase Deficiency
Tip-toe gait, Dehydration, Ataxia ORPHA:3008
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Sotos Syndrome
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Seizure, Decreased fer... ORPHA:821
Colchicine Poisoning
Alopecia, Dehydration ORPHA:31824
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Generalized-onset seizure, Delayed CNS myelination, Bilateral tonic-clonic sei... OMIM:620066
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Inability to walk, Hypothermia, Abnormality of temperature regulation, Unsteady gait OMIM:618493
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Depression, Generalized non-motor (absence) seizure, Attention deficit hyperactiv... ORPHA:77293
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Typical absence seizure, Optic disc coloboma, Short attention span, Pseudohypoparathyroidism, Del... OMIM:617157
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Tremor, Bilateral toni... OMIM:612474
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Leukodystrophy, Bilateral tonic-clonic seizure, Ataxia, Op... OMIM:252010
Glucagonoma
Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... ORPHA:97280
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination, Seizure OMIM:617333
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Ataxia, Abnormal ... ORPHA:280210
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Machado-Joseph Disease Type 1
Progressive gait ataxia, Abnormality of temperature regulation, Dysphagia, Progressive cerebellar... ORPHA:276238
Machado-Joseph Disease Type 2
Progressive gait ataxia, Abnormality of temperature regulation, Dysphagia, Progressive cerebellar... ORPHA:276241
Shigellosis
Dehydration ORPHA:810
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Thyroiditis, Type I diabetes mellitus, Bilateral tonic-clonic seizure ORPHA:436159
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Motor stereotypy, Cryptorchidism, Seizure OMIM:301040
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Sparse scalp hair, Fine hair, Umbilical hernia, Abnormal dental enamel... ORPHA:534
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Paternal Uniparental Disomy Of Chromosome 6
Oligohydramnios, Dehydration, Umbilical hernia ORPHA:96191
Cushing Disease
Memory impairment, Depression, Increased circulating cortisol level, Pituitary corticotropic cell... ORPHA:96253
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Bilateral tonic-clonic seizure, Atonic seizure, Increased circulating andro... ORPHA:2976
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Pearson Syndrome
Corneal stromal edema, Hydrops fetalis, Dehydration, Ataxia ORPHA:699
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Bilateral tonic-clonic seizure, Leukodystrophy ORPHA:79124
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Small for gestational age, Seizure OMIM:257300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
Turner Syndrome Due To Structural X Chromosome Anomalies
Depression, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mell... ORPHA:99413
Mosaic Monosomy X
Depression, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mell... ORPHA:99228
Monosomy X
Depression, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mell... ORPHA:99226
Turner Syndrome
Depression, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mell... ORPHA:881
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Generalized non-motor (absence) seizure, Generalized-onset seizure, Absent gallbla... ORPHA:500150
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Decrea... ORPHA:459070
Lysosomal Acid Lipase Deficiency
Ascites, Dehydration ORPHA:275761
Machado-Joseph Disease Type 3
Progressive gait ataxia, Abnormality of temperature regulation, Dysphagia, Progressive cerebellar... ORPHA:276244
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal circulating calcium-phosphate regulating hormone concentration, Seizure, Generalized non... ORPHA:2636
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Dec... ORPHA:672
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short attention span, Hyperactivity, Elevated circu... OMIM:608747
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Myoclonic seizure, Seizure, Violent behavior, Gait ataxia, Hypoplastic nipples,... OMIM:280000
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Edema, Nail dystrophy, Enamel hypoplasia, Dehydration ORPHA:79404
Infantile Nephropathic Cystinosis
Dehydration ORPHA:411629
Mccune-Albright Syndrome
Irregular menstruation, Precocious puberty, Increased circulating cortisol level, Increased circu... ORPHA:562
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizure, Multi... OMIM:301044
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Monosomy 18Q
Secondary growth hormone deficiency, Seizure, Bilateral cryptorchidism, Hypothyroidism, Abnormal ... ORPHA:1600
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive, Seizure OMIM:618426
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Mowat-Wilson Syndrome
Broad-based gait, Seizure, Inability to walk, Bruxism, EEG with generalized slow activity, EEG wi... ORPHA:2152
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Vici Syndrome
Albinism, Hypopigmentation of hair, Abnormal posturing OMIM:242840
Cockayne Syndrome Type 3
Seizure, Difficulty walking, Abnormality of peripheral nerve conduction, Cognitive impairment, De... ORPHA:90324
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios ORPHA:223
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Gaucher Disease
Cholelithiasis, Depression, Tremor, Delayed puberty, Bilateral tonic-clonic seizure, Ataxia, Dysp... ORPHA:355
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Chondrocalcinosis, Dehydration OMIM:601678
Juvenile Nephropathic Cystinosis
Dehydration ORPHA:411634
Ogden Syndrome
Generalized-onset seizure, Decreased testicular size, Cryptorchidism, Irritability, Dysphagia, To... OMIM:300855
45,X/46,Xy Mixed Gonadal Dysgenesis
Bilateral cryptorchidism, Decreased serum testosterone concentration, Azoospermia, Streak ovary, ... ORPHA:1772
Somatomammotropinoma
Depression, Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin... ORPHA:314769
Microsporidiosis
Dehydration ORPHA:2552
Marburg Hemorrhagic Fever
Lethargy, Dehydration ORPHA:99826
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Cystinosis, Nephropathic
Hypopigmentation of hair, Dehydration OMIM:219800
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Chondrocalcinosis, Dehydration OMIM:241200
Bartter Syndrome Type 4
Polyhydramnios, Dehydration ORPHA:89938
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Optic nerve hypoplasia OMIM:620502
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Seizure, Inability to walk, Bruxism, Cryptorchidism, Aganglionic megacolon, Cho... ORPHA:261537
Carpenter Syndrome 2
Generalized non-motor (absence) seizure, Bilateral cryptorchidism, Supernumerary nipple, Cryptorc... OMIM:614976
Holoprosencephaly 14
EEG abnormality, Bilateral tonic-clonic seizure OMIM:619895
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Dehydration ORPHA:47159
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Oliver Syndrome
Bilateral tonic-clonic seizure, Supernumerary nipple ORPHA:2920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Broad-based gait, Seizure, Inability to walk, Bruxism, Cryptorchidism, Aganglionic... ORPHA:261552
Cystic Fibrosis
Dehydration OMIM:219700
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Dehydration, Hirsutism ORPHA:90794
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Cryptorchid... ORPHA:353281
Cockayne Syndrome Type 1
Difficulty walking, Gait disturbance, Abnormality of temperature regulation, Ataxia ORPHA:90321
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Gait ataxia, Bilateral tonic-clonic seizure ORPHA:457359
Acromegaly
Depression, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Dysmenorrhea... ORPHA:963
Interstitial Cystitis
Abnormality of the menstrual cycle, Depression, Dyspareunia ORPHA:37202
Doors Syndrome
Optic atrophy, Congenital hypothyroidism, Myoclonus, Adrenal hyperplasia, EEG abnormality, Bilate... ORPHA:79500
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Difficulty walking, Thyroid ... ORPHA:249
Hartsfield Syndrome
Gonadotropin deficiency, Diabetes insipidus, Cryptorchidism, Bilateral tonic-clonic seizure OMIM:615465
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... ORPHA:67045
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Stuve-Wiedemann Syndrome 1
Abnormality of temperature regulation, Dysphagia, Fever, Recurrent fever OMIM:601559
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Cryptorchid... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Cryptorchid... ORPHA:353277
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Difficulty walking, Action tremor, Gait disturbance, Truncal ataxia, Dystonia, Abnormal myelinati... ORPHA:309854
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Deeah Syndrome
Abnormality of temperature regulation, Dysphagia, Self-mutilation OMIM:619004
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Acute Transverse Myelitis
Gait disturbance, Abnormality of temperature regulation, Fever ORPHA:139417
Testicular Agenesis
Decreased serum testosterone concentration, Absent testis, Vanishing testis, Increased circulatin... ORPHA:325124
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Malakoplakia
Abnormality of the menstrual cycle, Orchitis ORPHA:556
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation OMIM:209880
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hypoplasia of the thymus ORPHA:906
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Degcags Syndrome
Oral-pharyngeal dysphagia, Cryptorchidism, Chordee, Choking episodes, Abnormal myelination OMIM:619488
Kabuki Syndrome 1
Seizure, Congenital hypothyroidism, Bilateral tonic-clonic seizure with focal onset, Cryptorchidi... OMIM:147920
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... 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
Abnormal myelination, Dilated third ventricle, Bilateral cryptorchidism 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

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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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