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 (GABA) B receptor, 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gabbr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Ragweed Sensitivity
Fever OMIM:179450
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory evoked pot... OMIM:601068
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes OMIM:611364
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Enhancement of the C-reflex, Jerk-locked prem... OMIM:615127
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Focal-onset seizure, Bilateral tonic-clonic seizure, Giant som... OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Landau-Kleffner Syndrome
Interictal EEG abnormality, Emotional lability, Focal myoclonic seizure, Bilateral tonic-clonic s... ORPHA:98818
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, EEG abnormality, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, EEG w... OMIM:615369
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Semantic Dementia
Abulia, Dementia ORPHA:100069
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, EEG wit... OMIM:117100
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Inte... ORPHA:101046
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Continuous Spikes And Waves During Sleep
Dystonia, Atonic seizure, Focal hemiclonic seizure, Interictal epileptiform activity, EEG with fr... ORPHA:725
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, EEG with focal sha... ORPHA:163721
Neuropathy, Hereditary Thermosensitive
Fever OMIM:602107
Lennox-Gastaut Syndrome
Personality disorder, Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Atonic... ORPHA:2382
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bipolar affective disorder, Pachyg... OMIM:618873
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave comple... ORPHA:36387
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Interictal epileptiform activity, ... OMIM:254800
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, EEG with focal epileptiform discharges, Hypsarrhythmia, Focal-onset s... ORPHA:98820
Immunodeficiency 8
Hyperactivity OMIM:615401
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Cerebral cortical atrophy, Hyperactivity, EEG with focal spikes, Bipolar affectiv... ORPHA:485350
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Aggressive behavior, Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal ep... OMIM:619157
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:609446
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Succinic Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Aggressive behavior, Self-injurious behavior, Bilateral tonic-clonic sei... OMIM:271980
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Delayed menarche, B... ORPHA:330050
Dravet Syndrome
Generalized clonic seizure, Mental deterioration, Visually-induced seizure, Atonic seizure, Cereb... OMIM:607208
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, EEG with spike-wave complexes, Atonic seizure, Absence seizu... OMIM:618587
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Photosensitiv... ORPHA:86909
Unilateral Hemispheric Polymicrogyria
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:101071
Neuropathy, Painful
Fever OMIM:256870
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Dravet Syndrome
Photosensitive myoclonic seizure, Focal hemiclonic seizure, Interictal epileptiform activity, Imp... ORPHA:33069
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Mental deterioration, Difficulty walking, Atonic seizure, Eyelid myocl... ORPHA:2590
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst suppression, EEG with general... ORPHA:3006
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:601764
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Atonic seizure, Focal-onset seizure, Ataxia, Interictal... ORPHA:1942
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:607745
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Myoclonic seizure, Low frustration tolerance, Hyperactivity, Periventricular whit... ORPHA:168491
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Rare Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum, Hypopl... ORPHA:101685
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Hypopl... OMIM:619317
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, Ag... ORPHA:268947
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Irritability, Hy... OMIM:616657
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, D... ORPHA:1945
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Emotional lability, Interictal epileptiform activity, ... ORPHA:1929
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus, Myoclonus... OMIM:609056
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Abulia, Frontot... ORPHA:275864
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:178469
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Anx... OMIM:619191
Mental Retardation, Autosomal Dominant 52
Seizure, Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Myoclonic status epilepticus... OMIM:611726
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized-ons... ORPHA:79137
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Mental Retardation, Autosomal Dominant 39
Aggressive behavior OMIM:616521
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... OMIM:617836
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Bilateral tonic-clonic seizure, Seizure, Cortical dysplasia, Focal impaired ... ORPHA:208441
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure OMIM:618924
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with temporal epileptiform discharges, Interictal EEG abnormal... ORPHA:363558
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Photosensitiv... ORPHA:307
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Aggressive behavior, Ataxia, Seizure, Generalized non-motor (absence)... ORPHA:98811
Brunner Syndrome
Self-injurious behavior, Impulsivity, Aggressive behavior, Low frustration tolerance OMIM:300615
Severe Canavan Disease
Inability to walk, Lethargy, Cerebral white matter atrophy, Megalencephaly, Bilateral tonic-cloni... ORPHA:314911
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Bilateral Generalized Polymicrogyria
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:208447
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory evoked pot... OMIM:607876
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizur... OMIM:618856
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Failure to thrive OMIM:616281
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Cryptorchidism, Dystonia, Premature pubarche, Cerebral atrophy, Bilateral toni... ORPHA:457205
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, EEG with generalized epileptiform discha... ORPHA:1947
Isolated Focal Cortical Dysplasia
Thick cerebral cortex, Focal-onset seizure, Psychomotor deterioration, Seizure, Infantile spasms,... ORPHA:65683
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... 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
Angelman Syndrome
Atonic seizure, Cerebral cortical atrophy, Hyperactivity, Happy demeanor, Inappropriate laughter,... ORPHA:72
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Abnormal cerebral white matter morphology, Myoclonic absence seizure, Multifocal epileptiform dis... OMIM:618596
Lafora Disease
Hypsarrhythmia, Atonic seizure, Emotional lability, Erratic myoclonus, Ataxia, Lafora bodies, Foc... ORPHA:501
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Generalized non-motor (absence) seizure, Fasting hyperinsulinemia,... ORPHA:35878
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Cerebral dysmyelination, Seizure, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Spinocerebellar Ataxia 48
Tremor, Dystonia, Gait ataxia, Depression, Ataxia, Bilateral tonic-clonic seizure, Irritability, ... OMIM:618093
Mental Retardation, Autosomal Recessive 37
Seizure, Aggressive behavior, Hyperactivity OMIM:615493
Ceroid Lipofuscinosis, Neuronal, 6
Seizure, Abnormal nervous system electrophysiology OMIM:601780
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy, Difficulty walking, Ataxia, Generalized non-motor (absence) seizure, Leukoencepha... OMIM:618242
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Aggressive behavior, Hypoplasia of the corpus callosum, Ataxia, Seiz... OMIM:300983
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, EEG wit... ORPHA:289266
Developmental And Epileptic Encephalopathy 57
Hypsarrhythmia, Atypical absence seizure, Hypoplasia of the corpus callosum, Seizure, Generalized... OMIM:617771
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Aggressive behavior, Hyperactivity ORPHA:356996
Pontiac Fever
Fever ORPHA:99748
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Interictal EEG... ORPHA:79264
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Hypoplasia of the corpus callosum, Seizure, Abnormal corpus call... OMIM:604317
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Foxg1 Syndrome
Inability to walk, Dystonia, Delayed myelination, Inappropriate crying, Pachygyria, Agenesis of c... ORPHA:561854
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontotemporal dementia, In... OMIM:600274
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontot... OMIM:172700
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Generalized tonic seizure, Occipital cortical atrophy, Hypsarrhythmia, Atonic ... ORPHA:411986
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Secondary microcephaly, Ataxia, Status epilepticus, Generalized non-motor (absenc... OMIM:300912
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-cloni... OMIM:616645
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile s... ORPHA:352582
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Severe demyelinat... ORPHA:488635
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Hypsarrhythmia, Seizure, Status epilepticus, Secondary mi... OMIM:617830
Developmental And Epileptic Encephalopathy 18
Focal-onset seizure, Generalized non-motor (absence) seizure, EEG abnormality, Thick corpus callo... OMIM:615476
Satb2-Associated Syndrome Due To A Pathogenic Variant
Delayed myelination, Abnormal cerebral white matter morphology, Seizure, Typical absence seizure,... ORPHA:576283
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gait disturbance, Primary amenorrhea, Emotional lability, Seizure, Unsteady gait, Secon... OMIM:603896
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bilateral tonic-clonic sei... OMIM:300423
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Secondary amenorrhea, Elevate... OMIM:612964
Alternating Hemiplegia Of Childhood 1
Dystonia, Mental deterioration, Bilateral tonic-clonic seizure OMIM:104290
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Absent septum pellucidum, Focal-onset seizure, Hypoplasia of the corpus cal... ORPHA:88616
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Focal emotional seizure with laughing, Inappropriate crying, Cerebral white ... ORPHA:79351
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Hypsarrhythmia, EEG with burst suppression, Bilateral tonic-clonic sei... OMIM:612164
Pontocerebellar Hypoplasia, Type 14
Dystonia, Agenesis of corpus callosum, Delayed CNS myelination, Focal-onset seizure, Bilateral to... OMIM:619301
Early Infantile Epileptic Encephalopathy
Dystonia, Hypsarrhythmia, Atonic seizure, Hyperactivity, Precocious puberty, Generalized clonic s... ORPHA:1934
Gilbert Syndrome
Dehydration OMIM:143500
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Gait disturbance, Seizure, Generalized non-motor (absence) seizure, EEG abnormali... OMIM:618141
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Puberty and gonadal disorders, Cerebral white matter atrophy, Difficulty walking, Hypop... ORPHA:464282
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Delayed CNS myelination, Focal-onset seizure, Bilateral to... OMIM:619302
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Cryptorchidism, Febrile seizure (within the age range of 3 months to 6 years),... OMIM:618917
Macrophagic Myofasciitis
Fever ORPHA:592
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Progressive gait ataxia, Hypoplasia of the corpus callosum,... ORPHA:289494
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Depression, Gait disturbance, Bilateral tonic-clonic seizure, Seizure, A... ORPHA:457240
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive in infancy OMIM:619065
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Sarcosinemia
Optic atrophy, Ataxia, Bilateral tonic-clonic seizure, Emotional lability ORPHA:3129
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema, Long eyelashes OMIM:616069
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Primary amenorrhea, Female infertil... OMIM:612310
Cln5 Disease
Focal myoclonic seizure, Cerebral cortical atrophy, Periventricular white matter hyperdensities, ... ORPHA:228360
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Atonic seizure, Self-injurious behavior, Bilateral tonic-clonic se... ORPHA:382
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Dopa-Responsive Dystonia
Dystonia, Agoraphobia, Emotional lability, Panic attack, Generalized dystonia, Delayed myelinatio... ORPHA:255
Dystonia 12
Dystonia, Bradykinesia, Unsteady gait, Torticollis, Fever OMIM:128235
Developmental And Epileptic Encephalopathy 90
Hypsarrhythmia, Focal-onset seizure, EEG with burst suppression, Bilateral tonic-clonic seizure, ... OMIM:301058
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Developmental And Epileptic Encephalopathy 91
Delayed myelination, Hypsarrhythmia, Cerebral atrophy, Seizure, Multifocal epileptiform discharge... OMIM:617711
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Focal-onset seizure, Self-injurious b... OMIM:618760
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, EEG abnormality, Hyperactivity ORPHA:436151
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Bilateral tonic-clonic seizure, Status epilepticus, Seiz... ORPHA:529665
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Eating-induced seizure, Gait disturbance, Myoclonic absence seizure, Ataxia, Microcephaly... ORPHA:544254
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Delayed myelination, Difficulty walking, Cerebral atrophy, Seizure, Irritability, Microcephaly OMIM:617393
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Delayed myelination, Eyelid myoclonus, Cerebral atrophy, Ataxia, Generalized non-motor (absence) ... OMIM:613839
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, EEG with frontal sharp slow waves, Hypsarrhythmia, Hypoplasia of the corpus ca... ORPHA:457351
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hand tremor, Spastic gait, Hypoplasia of the corpus callosum ORPHA:401840
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Chronic Hiccup
Dehydration ORPHA:396
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased antimullerian hormone... OMIM:273250
Mehmo Syndrome
Inability to walk, Gait ataxia, Male hypogonadism, Aggressive behavior, Difficulty walking, Hypop... OMIM:300148
Sotos Syndrome 3
Hyperactivity OMIM:617169
Glycine Encephalopathy
Lethargy, Aggressive behavior, Seizure, Impulsivity, Irritability, Myoclonus, Hyperactivity, Agen... OMIM:605899
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Seizure, EEG abnormality, Foc... ORPHA:488613
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Childhood Absence Epilepsy
Low self esteem, Febrile seizure (within the age range of 3 months to 6 years), Depression, Myocl... ORPHA:64280
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Bipolar affective disorder, Aggressiv... ORPHA:3077
Tuberculosis
Fever ORPHA:3389
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Limb ata... OMIM:617350
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Lissencephaly Due To Lis1 Mutation
Hypsarrhythmia, Atonic seizure, Agyria, Cavum septum pellucidum, EEG with spike-wave complexes, P... ORPHA:95232
Harel-Yoon Syndrome
Inability to walk, Generalized non-motor (absence) seizure, Optic atrophy, Ataxia OMIM:617183
Cyclic Neutropenia
Fever OMIM:162800
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Lethargy ORPHA:28
46,Xy Sex Reversal 1
Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone level, Absence of se... OMIM:400044
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Seizure, Status epilepticus, EEG abnormality, Hyperactivity OMIM:239500
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Liang-Wang Syndrome
Dystonia, Cerebral atrophy, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Delayed myelination, Abnormal cerebral white matter morp... ORPHA:363686
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure,... ORPHA:98795
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Abnormal periventricular white matter morphology, Focal-onset seizure, Gait disturbance... ORPHA:395
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality, Precocious puberty OMIM:300801
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Bilateral tonic-clonic seizure, Interictal epileptiform activity... ORPHA:98784
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Hypothyroidism, Seizure, Adrenal insufficiency, Reduce... OMIM:262600
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Abnormal cerebral white matter morphology, Ataxia, B... ORPHA:248111
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Seizure, Hyperactivity, Microcephaly, Simplified gyral... OMIM:613402
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:614559
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Demyelinating peripheral neuropathy, Bilateral tonic-clonic seizure... ORPHA:313772
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, Dysmetri... OMIM:618090
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Hypointensity of cerebral white matter on MRI, Depression, G... ORPHA:845
Rabies
Fever, Attention deficit hyperactivity disorder ORPHA:770
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Dementia, ... ORPHA:251937
Diarrhea 2, With Microvillus Atrophy
Dehydration OMIM:251850
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Elevated circulating luteinizing h... ORPHA:3044
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Impulsivity, Anxiety, Hyperactivity... OMIM:616977
Trisomy X
Tremor, Depression, Seizure, Secondary amenorrhea, Anxiety, Cognitive impairment, Attention defic... ORPHA:3375
Mannosidosis, Beta A, Lysosomal
Seizure, Aggressive behavior, Demyelinating peripheral neuropathy, Hyperactivity OMIM:248510
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bipolar affective disorder, Depression, Progressive gait ataxia, Focal-onset seizure, Hypoplasia ... ORPHA:329308
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia gliosis, Hypsarrhythmia, Infantile spasms, EEG with focal spikes, Hypopla... ORPHA:79243
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Facial palsy, A... ORPHA:777
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dementia, Difficulty walking, Degeneration of anterior horn cells, Seizure, Facial palsy,... OMIM:159950
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Atonic seizure, Gait disturbance, Hypoplasia of the corpus callosum, Bilateral... ORPHA:93952
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, EEG with multifocal slow activity, Hypsarrhythmia, Difficulty walking, Cerebral atrophy, ... ORPHA:442835
Developmental And Epileptic Encephalopathy 16
Dystonia, Delayed myelination, Cerebral atrophy, Status epilepticus, Myoclonus, Secondary microce... OMIM:615338
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Classic Galactosemia
Cryptorchidism, Dystonia, Decreased serum insulin-like growth factor 1, Delayed puberty, Secondar... ORPHA:79239
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia, Torticollis OMIM:217150
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Ataxia, Seizure, Myoclonus, Hyperactivity, Mental deterioration OMIM:615924
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Primary a... ORPHA:168563
Gordon Holmes Syndrome
Infertility, Dementia, Oligomenorrhea, Cerebral atrophy, Ataxia, Hypogonadotropic hypogonadism OMIM:212840
Aminoacylase 1 Deficiency
Seizure, Cerebral atrophy, Delayed CNS myelination, Hyperactivity OMIM:609924
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Perrault Syndrome 1
Cognitive impairment, Increased circulating gonadotropin level, Gait ataxia, Primary amenorrhea OMIM:233400
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Seizure, Abnormal myelination, Optic atrophy, Inability to walk OMIM:618324
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Meningioma
Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Emotional lability, Memory impai... ORPHA:2495
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Complete Androgen Insensitivity Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Elevated circulating luteinizing... ORPHA:99429
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, ... OMIM:614487
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Polymicrogyria With Optic Nerve Hypoplasia
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Seizure, Infantile spasms, Dysplasti... ORPHA:250972
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Cerebral white matter atrophy, Difficulty walking, Bilateral tonic-clonic seizure... ORPHA:369840
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Generalized clonic seizure, Tremor, Generalized tonic seizure, Hypsarrhythmia,... OMIM:619229
Combined Malonic And Methylmalonic Acidemia
Dehydration, Dystonia ORPHA:289504
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Focal-onset seizure, Anxiety, Normal interictal EEG, Generalized-onset seizure OMIM:602066
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Delayed myelination, Interictal EEG abnormality, EEG with focal epileptiform discharges, Hypoplas... ORPHA:544503
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Delayed myelination, Aggressive behavior, Seizure, Hyperactivity, Microcephaly, Agenesis of corpu... OMIM:615286
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Sandhoff Disease
Hypohidrosis, Orthostatic hypotension, Impotence, Bilateral tonic-clonic seizure, Ataxia, Progres... OMIM:268800
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral white matter hypoplasia... OMIM:618730
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Seizure, Paroxysmal bursts of laughter, EEG a... OMIM:618718
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Seizure, Irritability, Anxiety, Cerebral calcif... OMIM:261600
Nicolaides-Baraitser Syndrome
Cryptorchidism, Abnormal testis morphology, Status epilepticus, Generalized non-motor (absence) s... ORPHA:3051
Kerion Celsi
Fever ORPHA:499
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Interictal EEG abnormality, EEG with generalized slow activity grade 4, Dementi... ORPHA:79263
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Cryptorchidism, Depression, Ataxia, Status epilepticus, Generalized non-motor ... OMIM:300260
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Febrile Infection-Related Epilepsy Syndrome
Fever, Lethargy ORPHA:163703
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Xq25 Microduplication Syndrome
Seizure, Hypoplasia of the corpus callosum, Anxiety, Hyperactivity ORPHA:521258
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Delayed myelination, Focal emotional seizure with laughing, Fatigabl... ORPHA:404454
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea, Gait disturbance, Simple febrile seizure, Seizure, Bilatera... ORPHA:1445
Xq25 Duplication Syndrome
Seizure, Hypoplasia of the corpus callosum, Anxiety, Hyperactivity OMIM:300979
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Depression, Abnormal testis morphology, Apathy, Absent septum pellucidum, Status ... ORPHA:96147
Melas
Cerebral cortical atrophy, Type II diabetes mellitus, Memory impairment, Mixed demyelinating and ... ORPHA:550
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Microcephaly ORPHA:726
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Abnormal myelination, Spastic gait, Cerebral cortical atrophy, Limb tremor, A... ORPHA:401820
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Cerebral atrophy, Seizure, Hyperactivity, Microcephaly, Optic atrophy, Agenesis of corp... OMIM:274270
Myoclonic Epilepsy Of Lafora
Progressive neurologic deterioration, Dementia, Gait disturbance, Bilateral tonic-clonic seizure,... OMIM:254780
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... ORPHA:95513
Transient Neonatal Diabetes Mellitus
Dehydration, Umbilical hernia ORPHA:99886
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95512
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impaired tandem gait, Impu... OMIM:619028
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Aggressive behavior, Depression, Gait imbalance,... ORPHA:98761
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Focal-onset seizure, Aplasia/Hypoplasia of the cerebral white matter,... ORPHA:268940
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Increased serum serotonin, Hyperactivity ORPHA:85288
Developmental And Epileptic Encephalopathy 79
Seizure, Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Myoclonic sei... OMIM:618559
Central Diabetes Insipidus
Dehydration, Lethargy ORPHA:178029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure, Abnormal periventricular white matter morphology OMIM:618992
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Ataxia, Bilateral tonic-clonic... ORPHA:435638
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Isovaleric Acidemia
Dehydration, Lethargy OMIM:243500
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Aggressive behavior, Difficulty walking, Hypoplasia of the corpus callosum, Bi... ORPHA:481152
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Coffin-Siris Syndrome 8
Seizure, Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Abnormal myelination, Optic atrophy, Inability to walk ORPHA:431329
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Seizure, Happy demeanor, Cessation of head growth, EEG abnormalit... ORPHA:411515
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure, Irritability, Microcephaly, Optic atrophy, Agenesis of corpus cal... ORPHA:99742
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Lethargy, Dystonia ORPHA:79312
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Hypoplasia of the corpus callosum,... ORPHA:500180
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Delayed CNS myelination, Hypsarrhythmia, Hypoplasia of the corpus callosum, Seizure, Bilateral to... OMIM:619076
Choreoacanthocytosis
Hair-pulling, Head titubation, Emotional lability, Decreased number of peripheral myelinated nerv... ORPHA:2388
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Galactosemia
Postural tremor, Dystonia, Lethargy, Premature ovarian insufficiency, Cryptorchidism, Oligomenorr... ORPHA:352
Chronic Recurrent Multifocal Osteomyelitis
Fever OMIM:259680
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure ORPHA:53583
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Seizure, Hyperactivity, Microcephaly OMIM:612716
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Tremor, Gait ataxia, Aggressive behavior, Hypoplasia of the corpus callosum, Abno... OMIM:300354
Hypercalcemia, Infantile, 1
Dehydration, Lethargy OMIM:143880
Proteasome-Associated Autoinflammatory Syndrome 5
Fever OMIM:619175
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Impotence, Hypopituitarism, Pituitary hypothyroidism, Seizure, Adrenocorticotropi... ORPHA:91354
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Azoospermia, Aplasia of the ovary, Abnormal circu... ORPHA:90797
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Decreased fertility in females, Elevated circulating luteinizing hormone level, D... ORPHA:90796
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Abnormal motor evoked potentials, Type II diabetes mellitus, Memory impairment, Postural tremor, ... ORPHA:412057
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Lethargy, Ataxia ORPHA:27
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing OMIM:304700
Pseudohypoparathyroidism Type 1C
Oligomenorrhea, Hypergonadotropic hypogonadism, Depression, Pseudohypoparathyroidism, Laryngeal d... ORPHA:79444
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Generalized dystonia, Atten... ORPHA:216866
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Dystonia, Progressive cerebellar ataxia ORPHA:98757
Ck Syndrome
Pachygyria, Aggressive behavior, Seizure, Polymicrogyria, Irritability, Hyperactivity, Microcepha... ORPHA:251383
Hereditary Central Diabetes Insipidus
Fever, Lethargy ORPHA:30925
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Seizure, Anxiety, Hyperactivity, Microcephaly OMIM:300558
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Lethargy, Ataxia, Bilateral tonic-... ORPHA:42
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Molybdenum Cofactor Deficiency, Complementation Group C
Cerebral atrophy, Bilateral tonic-clonic seizure, Seizure, Opisthotonus, Polymicrogyria, Spontane... OMIM:615501
Developmental And Epileptic Encephalopathy 95
Inability to walk, Multifocal seizures, Cryptorchidism, Inappropriate laughter, Inappropriate cry... OMIM:618143
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Seizure, Abnormal myelination, Agenesis of corpus call... ORPHA:85179
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Perrault Syndrome 4
Premature ovarian insufficiency, Gait ataxia, Increased circulating gonadotropin level, Oligomeno... OMIM:615300
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Interictal epileptiform activ... ORPHA:79139
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618770
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:91355
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, EEG abnormality, Myoclonus, Hand tremor, Generalized-onset seizure ORPHA:86814
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Dementia, Diabetes mellitus, Bilateral tonic-clonic seizure OMIM:540000
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Generalized tonic seizure, Retractile testis, Hypoplasia of the corpus callosu... OMIM:617193
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Decreased fertility in females, Elevated circulating luteinizing hormone level, A... ORPHA:251510
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Psychomotor deterioration, Abnormal cerebral white matter morphology,... ORPHA:35069
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Seizure, Cortical dysplasia, Hyperactivit... ORPHA:457260
49,Xxxyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormality of the testis size, Abno... ORPHA:261534
Adenylosuccinase Deficiency
Inability to walk, Self-mutilation, Gait ataxia, Inappropriate laughter, Aggressive behavior, Cer... OMIM:103050
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Ataxia, Delayed puber... ORPHA:243
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Abnormal cerebral white matter morphology, Seizure, Abnormal myelination, ... ORPHA:352682
Ck Syndrome
Pachygyria, Aggressive behavior, Seizure, Polymicrogyria, Irritability, Hyperactivity, Microcephaly OMIM:300831
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:289548
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Delayed CNS myelination, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:615802
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:168558
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Delayed myelination, Hypoplasia of the corpus callosum, Ataxia, S... ORPHA:98794
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Lissencephaly 8
Hypoplasia of the corpus callosum, Seizure, Abnormal myelination, Polymicrogyria, Microcephaly, O... OMIM:617255
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Dystonia, Compensated hypo... ORPHA:480864
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormality of temperature regulation ORPHA:2926
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Premature Ovarian Failure 8
Increased circulating gonadotropin level, Ovarian neoplasm, Premature ovarian insufficiency, Prim... OMIM:615723
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Dysmetria ORPHA:157941
Cirrhosis, Familial
Fever, Lethargy OMIM:215600
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Cerebral atrophy, Ataxia, Status epilepticus, Seizure, Pro... ORPHA:363400
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Reticular Dysgenesis
Dehydration ORPHA:33355
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Enteric Anendocrinosis
Dehydration ORPHA:83620
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cryptorchidism, Chordee, Atonic seizure, Cerebral cortical atrophy, Posterior pituitary hypoplasi... ORPHA:268261
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Aggressive behavior, Focal-onset seizure, Ataxia, Seizure, Co... OMIM:610042
Progressive Supranuclear Palsy
Tremor, Dystonia, Memory impairment, Dementia, Depression, Blepharospasm, Bradykinesia, Cerebral ... ORPHA:683
Multicentric Reticulohistiocytosis
Fever ORPHA:139436
Pseudohypoparathyroidism Type 1A
Oligomenorrhea, Hypergonadotropic hypogonadism, Depression, Pseudohypoparathyroidism, Laryngeal d... ORPHA:79443
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Familial Cold Urticaria
Dehydration ORPHA:47045
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Microcephaly, Hyperactivity OMIM:300434
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor, Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Delayed myelination, Difficulty walking, Seizure, Unsteady gait, Microceph... OMIM:617807
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-injuriou... ORPHA:466943
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
X-Linked Intellectual Disability Due To Gria3 Mutations
Self-mutilation, Cryptorchidism, Aggressive behavior, Hypoplasia of the corpus callosum, Bilatera... ORPHA:364028
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Tremor, Dystonia, Aggressive behavior, Abnormal autonomic n... ORPHA:2131
Lujo Hemorrhagic Fever
Fever, Lethargy ORPHA:319213
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Anxiety, Hyperactivity, Microcephaly OMIM:609425
African Trypanosomiasis
Papilledema, Spontaneous abortion, Abnormal basal ganglia MRI signal intensity, Aggressive behavi... ORPHA:3385
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Mental Retardation, Autosomal Recessive 57
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset sei... OMIM:617188
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Agenesis of corpus callosum, Peripheral hypomye... OMIM:618733
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Focal-onset seizure, Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizu... OMIM:619092
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with spike-wave complexes, Gait disturbance, Aganglionic megacolon, Bilateral tonic-clonic se... ORPHA:247262
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Lethargy OMIM:251000
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Pachygyria, Focal-onset seizure, Seizure, Generalized non-motor (absence) seiz... ORPHA:258
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Lethargy, Abnormal posturing OMIM:614857
Hermansky-Pudlak Syndrome 10
Dystonia, Delayed CNS myelination, Cerebral atrophy, Bilateral tonic-clonic seizure, Focal myoclo... OMIM:617050
Bonnemann-Meinecke-Reich Syndrome
Microcephaly, EEG abnormality, Cerebral calcification, Decreased response to growth hormone stimu... ORPHA:1261
Clark-Baraitser Syndrome
Seizure, Aggressive behavior, Hyperactivity OMIM:617752
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavi... OMIM:615516
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Depression, Focal-onset seizure, Hypothyroidism, Abnormal cerebral white matter morpholog... ORPHA:83601
Netherton Syndrome
Abnormal hair morphology, Sparse scalp hair, Dehydration, Sparse and thin eyebrow, Trichorrhexis ... ORPHA:634
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Pachygyria, Delayed CNS myelination, Focal-onset seizure, Hypoplasia of the corpus callosum, Cere... OMIM:619091
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Delayed CNS myelination, Hypsarrhythmia, EEG with burst suppression, Seizure, Tonic seizure, Hype... OMIM:619239
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Bilateral tonic-clonic seizure, Cerebral hypomyelination, Leukoencephalo... OMIM:608809
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Seizure, Hyperactivity, ... OMIM:601853
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Seizure, Exaggerated s... ORPHA:309246
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Hyperaldosteronism, Seizure, Focal myoclonic seizure, Abnormal ci... ORPHA:369929
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, ... ORPHA:447997
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circula... ORPHA:99832
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, EEG with multifocal slow activity, Seizure, Hyperactivity, Microcephaly OMIM:616809
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Corpus callosum atrophy, Cerebral white matter atrophy, Cerebral cortical at... ORPHA:369939
Propionic Acidemia
Dehydration, Lethargy, Dystonia OMIM:606054
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Ataxia OMIM:560000
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Intention tremor, Cerebral at... OMIM:610217
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Dystoni... ORPHA:496641
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Mental Retardation, Autosomal Dominant 34
Secondary microcephaly, Bilateral tonic-clonic seizure, Broad-based gait OMIM:616351
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Abnormal periventricular white matter morphology, Difficult... ORPHA:139396
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hypoplasia of the corpus callosum, EEG abnormality, Hyperactivity, Secondary... OMIM:617773
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized tonic seizure, EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Multifo... ORPHA:369837
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Delayed myelination, Akinetic mutism, Cerebral white matter atrophy, Pachygyria, Abnormal caudate... ORPHA:2148
Microphthalmia-Brain Atrophy Syndrome