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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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, Optic nerve hypoplasia, Seizure, Motor stereotypy 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
Depression, Attention deficit hyperactivity disorder OMIM:613003
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Severe Primary Trimethylaminuria
Obsessive-compulsive trait, Emotional lability, Depression, Negative affectivity, Aggressive beha... ORPHA:468726
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Bilateral tonic-clonic s... OMIM:615127
Schizophrenia 15
Hyperactivity OMIM:613950
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Enhancement of the C-reflex, Bilateral tonic-clonic seizure, Giant somatosen... OMIM:613608
Obsessive-Compulsive Disorder
Depression, Skin-picking, Collectionism, Compulsive behaviors OMIM:164230
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure... 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
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Centralopathic Epilepsy
Nocturnal seizures, EEG with centrotemporal focal spike waves, Focal-onset seizure, Bilateral ton... OMIM:117100
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with generalized poly... OMIM:615369
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:619970
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Continuous Spikes And Waves During Sleep
Focal-onset seizure, Focal motor seizure, Cognitive impairment, Atypical absence seizure, Atonic ... ORPHA:725
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizur... OMIM:615400
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:616056
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Lennox-Gastaut Syndrome
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Falls, Hyperactivity, EEG with ... ORPHA:2382
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, EEG with focal sharp waves, Bilateral tonic-clonic seizure with foc... ORPHA:163721
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Obsessive-compulsive trait, EEG with polyspike wave comp... OMIM:617665
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, EEG with generalized epileptiform d... OMIM:616187
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, EEG wi... OMIM:614018
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myocloni... OMIM:617389
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hyperactivity, Hypsarrhythmia,... ORPHA:599373
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:616346
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Interictal epilep... OMIM:619157
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure... OMIM:266100
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Aty... OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Depression, Generalized-onset seizure, Bila... OMIM:618873
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus... ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Generalized myoclonic seizure, Difficulty walking, Focal-onset seizure, Inability ... 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
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic absence s... OMIM:619000
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... ORPHA:139431
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Obsessive-compulsive trait, Generalized myoclonic seizur... ORPHA:36387
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure... OMIM:616409
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Irritability, Generalized myoclonic seizure, EEG with ir... ORPHA:86909
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Depression, Hyperactivity... ORPHA:485350
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren... 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, EEG with polyspike wave complexes, Truncal ataxia, Absence seizure... OMIM:618587
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 59
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic sei... OMIM:617904
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... OMIM:271980
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Generalized non-motor (absence) seizure, Inability to walk, Tremor, Bilateral toni... 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
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Hypsarrhythmia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Myocl... OMIM:616139
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Developmental Delay With Or Without Epilepsy
Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Impulsivity, Cognitive impairment, Action trem... 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 non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Irritability, Torsion dystonia, Seizure, Dystonia, Ataxi... ORPHA:98811
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Dementia, Depression, Emotional lability, Seizure, Tremor, Confusion, Bilate... OMIM:615362
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Pyridoxine-Dependent Epilepsy
Multifocal epileptiform discharges, Irritability, Epileptic spasm, Focal-onset seizure, Focal myo... ORPHA:3006
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Dysplasia Of Head Of Femur, Meyer Type
Fever, Waddling gait, Antalgic gait ORPHA:168621
Developmental And Epileptic Encephalopathy 91
Multifocal epileptiform discharges, Epileptic spasm, Hypsarrhythmia, Seizure, Focal motor seizure... OMIM:617711
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, Aggress... ORPHA:168491
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Rolandic Epilepsy
Focal-onset seizure, Depression, Emotional lability, EEG with irregular generalized spike and wav... ORPHA:1945
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizur... OMIM:620145
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Atypical ... OMIM:613855
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Simple febrile se... ORPHA:1942
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Tonic seizure, Bilateral tonic-clonic seizure, Focal clo... ORPHA:140927
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Irritability, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, ... OMIM:609056
Pontiac Fever
Fever ORPHA:99748
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Dementia, Depression, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:162350
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Dementia, Falls, Truncal ataxia, Gait disturbance, Bilateral tonic-clonic seizure, A... OMIM:616230
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Photosensitive tonic-... ORPHA:307
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Bilateral tonic-clonic seizure, Aggr... OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Dementia, Depression, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Sta... OMIM:204300
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Hypsarrhythmia, Focal emotional seizure with laughing, Bilateral tonic-clonic se... ORPHA:293181
Yoon-Bellen Neurodevelopmental Syndrome
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive, Status epile... OMIM:619701
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, Cognitive ... ORPHA:1929
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, ... ORPHA:208441
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with spike-wave complexes... ORPHA:79137
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Developmental And Epileptic Encephalopathy 42
Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Convulsive... OMIM:617106
Pyknoachondrogenesis
Stillbirth OMIM:265880
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Perrault Syndrome 3
Seizure, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:614129
Unilateral Focal Polymicrogyria
Simple febrile seizure, EEG with parietal focal spikes, Focal motor seizure, Seizure, EEG with ce... ORPHA:268947
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia... OMIM:617862
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Delayed puberty, Delayed thelarche, Seizure, Primary ame... OMIM:616033
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Oc... ORPHA:208447
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Focal EEG discharges with secondary generalization, Photosensitive myocl... ORPHA:263516
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Mental deterioration, Bilateral tonic-clonic seizure, Ataxia, Myo... OMIM:619191
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Decreased nerve conduction velocity, Premature pubarche, Inability t... ORPHA:457205
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-clonic seizure,... OMIM:617836
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait a... OMIM:618090
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Attention deficit hyperactivi... ORPHA:35878
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Tonic seizure, Atypical ... OMIM:617771
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Seizure, Athetosis, Bilateral tonic-clonic seizure,... ORPHA:382
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Generalized clonic seizure, Generalized non-motor (absence) seizure, Epileptic spa... OMIM:616211
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar para... OMIM:300388
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Bilat... OMIM:611726
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral ton... OMIM:617976
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Bilateral t... OMIM:607876
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Hypsarrhythmia, Seizure, Delayed myelination, Motor stereotypy,... OMIM:617830
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Statu... OMIM:616540
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Febrile seizure (within t... OMIM:615744
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Dementia, Seizure, Bilateral tonic-clonic seizure,... OMIM:301020
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Optic atrophy, Bilateral tonic-clonic seizure, Gait ataxia, Ataxia, EEG abnormality OMIM:614322
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Small pituitary gland, Bilateral tonic-clonic seizure wi... OMIM:620115
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus... OMIM:616645
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, EEG with multifocal slow activity, Bilateral tonic-clonic s... ORPHA:289266
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Inability to walk, H... ORPHA:411986
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Multifocal epileptiform discharges, Agitation, Focal-onset seizure, Inability to wal... OMIM:617166
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Inability to walk, Bruxism, Seizure, Bilateral tonic-clonic seizure, Tonic seizu... OMIM:618497
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Unsteady gait, Ataxia, Delayed CNS my... OMIM:620317
Lafora Disease
Focal-onset seizure, Atypical absence seizure, Atonic seizure, Ataxia, Giant somatosensory evoked... ORPHA:501
Foxg1 Syndrome
Focal-onset seizure, Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Bilateral ... ORPHA:561854
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Angelman Syndrome
Cerebral dysmyelination, Precocious puberty in females, Hyperactivity, Atypical absence seizure, ... ORPHA:72
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Cerebral dysmyelination, Gait imbalance, ... ORPHA:101070
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Atypical absence seizure, Myoclonic absence seizure, Myocloni... OMIM:618596
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:619616
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Delayed myelination, Motor stereotypy OMIM:613886
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Irritability, Bilateral tonic-clonic seizure, CNS demyelination, Dystonia OMIM:618237
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, E... OMIM:604317
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Memory impairment, Seizure, Aggressive behavior OMIM:247100
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Difficulty walking, Ataxia, Leukodystrophy OMIM:618242
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Premature Ovarian Failure 7
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612964
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Abnormal autonomic nervous system physiology, Bilate... OMIM:617935
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Short attention span,... OMIM:300558
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Cyclic Neutropenia
Fever OMIM:162800
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Spinocerebellar Ataxia 48
Irritability, Depression, Mental deterioration, Tremor, Bilateral tonic-clonic seizure, Gait atax... OMIM:618093
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Compulsive behaviors, Bilateral tonic-clonic seizure, Gai... OMIM:618917
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, ... OMIM:615859
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Premature ovarian insufficiency, Decreased circulating progesterone, Memory impair... OMIM:603896
Developmental And Epileptic Encephalopathy 41
Irritability, Epileptic spasm, Myoclonic status epilepticus, Inability to walk, Hypsarrhythmia, F... OMIM:617105
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Severe Canavan Disease
Optic atrophy, Irritability, Inability to walk, Oral-pharyngeal dysphagia, Seizure, Bilateral ton... ORPHA:314911
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Myoclonic absence seizure, Tremor, Generalized-onset seizure, Recurre... ORPHA:544254
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Focal T2 hyperintense thalamic lesion, Progressive cerebellar ataxia, Depression, ... ORPHA:254881
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Multifocal epileptiform discharges, EEG with focal slow activity, Bilateral tonic-clonic... ORPHA:209370
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality, Focal impaired awar... OMIM:613970
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Athetosis, Bilateral tonic-clonic seizure, Dystonia, Dysphagia, Delayed CNS mye... OMIM:617493
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Dementia, Seizure, Bilateral tonic-clonic seizure, Loss of ambulation, Myoclonus, ... OMIM:204200
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Depression, Emotional lability, Seizure, Motor deteriorati... ORPHA:79264
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Focal-onset seizure, Inability to walk, Hypsarrhythmia, Infantile spasms, Gait dis... OMIM:618012
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Macrophagic Myofasciitis
Fever ORPHA:592
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Limb dystonia, Myoclonic seizure, Atonic seizure, Dysphagia, Myoclonus, Moto... OMIM:616973
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure, EEG ... OMIM:617290
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Mantle Cell Lymphoma
Fever, Anorexia ORPHA:52416
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Mental deterioration, Dysdiadochokinesis, Bilateral tonic-cl... OMIM:620453
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Hypsarrhythmia, Seizure, Infantile spasms, Ataxia, Delay... OMIM:617201
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, G... OMIM:620166
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Lethargy ORPHA:28
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Chronic Hiccup
Dehydration ORPHA:396
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity, Bilateral tonic-clonic seizure OMIM:240900
Hyperprolinemia Type 2
Depression, Seizure, Generalized-onset seizure, Confusion, Short attention span, Early onset abse... ORPHA:79101
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Falls, Seizure, Gait disturbance, Bilateral tonic-clonic seizure, Action tremor, Delayed CNS myel... OMIM:300423
Peho-Like Syndrome
Hypsarrhythmia, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Dk1-Cdg
Focal-onset seizure, Hypsarrhythmia, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, F... ORPHA:91131
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Focal-onset seizure, Demyelinating peripheral neuropathy, Athetosis, Bilateral ton... OMIM:614559
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Tremor, Bilateral tonic-clonic seizure, Dystonia, Ataxia OMIM:618425
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Stereotypical h... OMIM:619854
Folinic Acid-Responsive Seizures
Optic atrophy, Irritability, Generalized myoclonic seizure, Difficulty walking, Multifocal epilep... ORPHA:79097
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal impaired awareness sei... OMIM:301058
New-Onset Refractory Status Epilepticus
Status epilepticus without prominent motor symptoms, EEG with spike-wave complexes, Seizure preci... ORPHA:363558
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Gangliocytoma
Focal-onset seizure, Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Imp... ORPHA:251937
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
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure, Diminished ability to concentrate, Motor... OMIM:620688
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:104290
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dystoni... OMIM:619301
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Seizure, Generalized-onset... OMIM:619827
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure, Delayed myelination, Dysphagia, Attention deficit hyperactivity... ORPHA:576283
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Gait ataxia, Myoclonic seizure, Opisthotonus, Ataxia, Delayed CNS myelination, Aggre... OMIM:619580
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Irritability, Generalized myoclonic seizure, Epileptic s... ORPHA:79351
Harel-Yoon Syndrome
Optic atrophy, Generalized non-motor (absence) seizure, Inability to walk, Dystonia, Ataxia OMIM:617183
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Seizure, Myoclonic absence seizure, Dystonia, Ataxia, Delayed CNS myelination, Cho... OMIM:616034
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Intention tremo... OMIM:618170
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dystoni... OMIM:619302
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Cognitive impa... OMIM:614487
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Sarcosinemia
Emotional lability, Optic atrophy, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, EEG with focal spikes, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Seve... ORPHA:488635
Early Infantile Epileptic Encephalopathy
Focal-onset seizure, Hyperactivity, Atonic seizure, Myoclonus, EEG abnormality, Generalized non-m... ORPHA:1934
Lissencephaly 3
Seizure, Ataxia, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Obsessive-compulsive trait, Hyperactivity, Low frustrati... ORPHA:363686
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Hypsarrhythmia, Tremor... OMIM:612164
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Childhood Disintegrative Disorder
Abnormal emotion, Mental deterioration, Progressive language deterioration, Motor stereotypy, Dem... ORPHA:168782
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Choreoathetosis... OMIM:616981
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Hypsar... ORPHA:457351
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618187
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Demyelinating peripheral neuropathy, Dysdiadochokinesis, Bilateral... ORPHA:313772
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Infantile spasms, Abnormal thal... ORPHA:467166
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Recurrent hand flapping, Bilateral tonic-... OMIM:617600
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat... OMIM:273250
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait, Bilateral tonic-clonic seizure with generaliz... ORPHA:98795
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Difficulty walking, Focal myoclonic seizure, Seizure, Waddling gai... ORPHA:464282
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Paroxysmal dystonia, Normal interictal EEG, Focal sensory seizure, Infantile... OMIM:602066
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Polyphagia, Focal impaired awareness seizure, Self-mutil... OMIM:616521
Cholangiocarcinoma
Fever, Anorexia ORPHA:70567
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Resting tremor, Dilated third ventricle, Bilateral tonic-clonic seizure, Inte... OMIM:619725
Perrault Syndrome 1
Gait ataxia, Intention tremor, Ataxia, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233400
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Hand tremor, Abnormal myelination ORPHA:401840
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Difficulty walking, Seizure, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, ... ORPHA:529665
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia, Unsteady gait, Dysmetria OMIM:203740
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia ORPHA:2023
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Depression, Seizure, Tremor, Bilateral ton... ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Inability to walk, Depression, Seizure, Hostility, Tonic... OMIM:300260
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... OMIM:400044
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Tay-Sachs Disease
Optic atrophy, Abnormal thalamic MRI signal intensity, Typical absence seizure, Inability to walk... ORPHA:845
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Hypsarrhyt... OMIM:300912
Cerebral Creatine Deficiency Syndrome 2
Seizure, Tremor, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 month... OMIM:612736
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Panhypophysitis
Polydipsia, Abnormal thalamic MRI signal intensity, Impotence, Abnormal posterior pituitary morph... ORPHA:95513
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Male hypogonadism, Infertility, Decreased serum testosterone concentration, Primar... ORPHA:168563
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration, Long eyelashes OMIM:616069
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, Precocious pu... OMIM:619877
Aminoacylase 1 Deficiency
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Delayed CNS myelination OMIM:609924
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Den Hoed-De Boer-Voisin Syndrome
Focal-onset seizure, Ataxia, Dysphagia, Myoclonus, EEG abnormality, Generalized non-motor (absenc... OMIM:619229
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure, Delayed CNS myelination OMIM:620200
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus, Dystonia, Ataxia OMIM:618729
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin... OMIM:262600
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Irritability, Emotional lability, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Gait di... ORPHA:199354
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
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
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Paroxysmal dystonia, Depression, EEG with focal s... ORPHA:98784
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Irritability, Inability to walk, Seizure, Athetosis, Gait disturbance, Delayed mye... OMIM:618241
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Failure to thrive, Focal impaired awareness seizure, Mul... ORPHA:488613
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Hyperactivity, Low frustration tolerance, Seizure,... ORPHA:163681
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Bilateral tonic-clonic seizure, Decreased testicular size, Febrile seizure (withi... ORPHA:3044
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Difficulty walking, Dementia, Tremor, Facial palsy, Generalized-on... OMIM:159950
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Focal emotional seizure with laughing, Bilateral tonic-clonic seiz... OMIM:619881
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Meningioma
Focal-onset seizure, Transient global amnesia, Impotence, Cognitive impairment, Decreased circula... ORPHA:2495
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Premature ovarian insufficiency, Difficulty walking, Depression, Ataxia, Amenorrhea OMIM:619425
Central Diabetes Insipidus
Dehydration, Lethargy ORPHA:178029
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Hypsarrhythmia, EEG with multifocal slow activity, Seizure, Tr... ORPHA:442835
Childhood Absence Epilepsy
Typical absence seizure, Depression, Myoclonic absence seizure, Bilateral tonic-clonic seizure, A... ORPHA:64280
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:100988
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Bruxism, Continuous spike and waves during slow sleep, F... OMIM:620149
Sulfite Oxidase Deficiency, Isolated
Agitation, Bilateral tonic-clonic seizure, Ataxia, Generalized dystonia, Multifocal epileptiform ... OMIM:272300
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Complete Androgen Insensitivity Syndrome
Delayed puberty, Male infertility, Abnormal circulating follicle-stimulating hormone concentratio... ORPHA:99429
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95512
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Dehydration, Ataxia, Lethargy ORPHA:27
Transient Neonatal Diabetes Mellitus
Dehydration, Umbilical hernia ORPHA:99886
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Abnormal testis morphology, St... ORPHA:3051
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Hypercalcemia, Infantile, 1
Dehydration, Lethargy OMIM:143880
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Hypsarrhythmia, EEG with focal sharp slow waves, Bilateral tonic-clonic seizure, Tonic seizure, M... OMIM:619983
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability ... ORPHA:404454
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Developmental And Epileptic Encephalopathy 106
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:620028
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Dehydration, Lethargy ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Irritability, Focal motor seizure, Bilateral tonic-clonic seizure OMIM:618235
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,... OMIM:613839
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Irritability, Seizure, Infantile spasms, EEG with focal epileptiform discharges, Bilateral tonic-... ORPHA:544503
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk, Abnormal myelination ORPHA:431329
Sandhoff Disease
Orthostatic hypotension, Progressive psychomotor deterioration, Impotence, Exaggerated startle re... OMIM:268800
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Isovaleric Acidemia
Dehydration, Lethargy OMIM:243500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Familial Renal Glucosuria
Dehydration ORPHA:69076
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Abnormal thalamus morphol... ORPHA:435638
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onse... ORPHA:395
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Azoospermia, Hyperactivity, Seizure, Oligoz... ORPHA:8
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality, Precocious puberty OMIM:300801
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Irritability, Bilateral tonic-clonic seizure, Febrile se... OMIM:617798
Canavan Disease
Optic atrophy, Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure, CNS demyelination... OMIM:271900
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic gait, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:615031
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Seizure, Bilateral tonic-clonic seizure with focal onset, Loss of ambulation, Foca... OMIM:617933
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Ring Chromosome 21 Syndrome
Simple febrile seizure, Generalized myoclonic seizure, Azoospermia, Bilateral tonic-clonic seizur... ORPHA:1445
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Bilateral tonic-clonic seizure, Action tremor, Atonic seizur... ORPHA:93952
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure, Choreoathetosis ORPHA:53583
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
Lissencephaly Due To Lis1 Mutation
Generalized myoclonic seizure, EEG with spike-wave complexes, Hypsarrhythmia, Seizure, Focal moto... ORPHA:95232
D-2-Hydroxyglutaric Aciduria 1
Hypsarrhythmia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclon... OMIM:600721
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cognitive impairment, Dysphagia, Hypogonadism, Type I diabetes mellitus, Difficulty walking, Memo... ORPHA:412057
Spinocerebellar Ataxia Type 10
Progressive cerebellar ataxia, Gait imbalance, Depression, Dysdiadochokinesis, Focal motor seizur... ORPHA:98761
Acromesomelic Dysplasia 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:609441
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Choreoathetosis ORPHA:726
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Focal-onset seizure, Falls, Depression, Bilateral tonic-clonic seizure, Loss of am... ORPHA:329308
Chronic Recurrent Multifocal Osteomyelitis 3
Fever OMIM:259680
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Cerebrooculofacioskeletal Syndrome 1
Hirsutism, Dehydration, Elbow flexion contracture, Camptodactyly, Flexion contracture, Knee flexi... OMIM:214150
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Gait ataxia, Cogn... OMIM:615300
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Torticollis,... OMIM:620224
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Hypsarrhythmia, EEG with focal spikes, Infantile spasms, Seizure, EEG with foc... ORPHA:79243
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral tonic-clonic ... OMIM:619911
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Inappropriate l... OMIM:615802
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-c... OMIM:610042
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
D-Glyceric Aciduria
Focal clonic seizure, Tongue thrusting, Hypsarrhythmia, Optic nerve hypoplasia, Seizure, Bilatera... OMIM:220120
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Male infertility, Increased serum test... ORPHA:90797
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Limb tremor, Difficulty walking, Abnormal myelination ORPHA:401820
Enteric Anendocrinosis
Dehydration ORPHA:83620
Pseudohypoparathyroidism Type 1C
Irritability, Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Eleva... ORPHA:79444
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Gait disturbance, Gait ataxia, Dysmetria ORPHA:157941
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Aganglionic megacolon, Inability to walk, Seizure, Bilat... OMIM:614207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Progressive Supranuclear Palsy
Irritability, Falls, Depression, Emotional lability, Memory impairment, Tremor, Blepharospasm, Im... ORPHA:683
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Exaggerated startle response, Tonic... OMIM:617281
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Memory impairm... ORPHA:251623
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Ataxia, Primary amenorrhe... ORPHA:243
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Azoospermia, Low frustration tolerance, Abnormality of ... ORPHA:99330
Reticular Dysgenesis
Dehydration ORPHA:33355
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prola... ORPHA:91355
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility, Delayed puberty, Absence of secondary sex characteristics, Abnormal circulat... ORPHA:90796
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Bruxism OMIM:615716
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Dementia, Gait disturbanc... OMIM:254780
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Irritability, Focal myoclonic seizure, Difficulty walking, Inability to walk, Seizure, Bilateral ... ORPHA:481152
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Abnormal glossopharyngeal nerve morphology, C... ORPHA:268940
Dpm1-Cdg
Optic atrophy, Generalized myoclonic seizure, Seizure, Delayed myelination, Early onset absence s... ORPHA:79322
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Seizure, Bilateral tonic-clonic seizure, Exaggerated star... ORPHA:309155
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:615398
Alfadhel Syndrome
Seizure, Delayed CNS myelination, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:620655
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Seizure, Pitui... ORPHA:91354
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Hypoglycemic seizures, Generalized myoclonic seizure, Seizure, Infantile spasms, B... ORPHA:480864
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within t... OMIM:618010
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De... ORPHA:95699
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
Carnitine Deficiency, Systemic Primary
Dehydration, Lethargy OMIM:212140
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer... OMIM:617442
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Waddling gait, Bilateral tonic-clonic seizure ORPHA:369840
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Pseudohypoparathyroidism Type 1A
Irritability, Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Eleva... ORPHA:79443
49,Xxxyy Syndrome
Increased circulating gonadotropin level, Low frustration tolerance, Abnormality of the testis si... ORPHA:261534
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Male infertility, Testicular gonadobla... ORPHA:251510
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Gait disturbance ORPHA:216866
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Irritability, Epileptic spasm, Depression, Seizure, Abno... ORPHA:96147
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency