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
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:601068
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, EEG with spike-wave complexes, Focal aware seizure, Focal impaired awar... OMIM:614417
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Enhancement of the C-reflex, Bilateral tonic-clonic seizure, Sei... OMIM:615127
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Focal-onset seizure, Enhancem... OMIM:613608
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure, Normal interictal EEG OMIM:269720
Landau-Kleffner Syndrome
Aggressive behavior, EEG with frontal focal spikes, Nocturnal seizures, Depression, EEG with temp... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Seizure OMIM:617643
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Developmental And Epileptic Encephalopathy 94
Tonic seizure, EEG with generalized spikes, Atonic seizure, Visually-induced seizure, Generalized... OMIM:615369
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Generalized non-motor (absence) seizure, Bilateral tonic-clonic ... OMIM:254770
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Small for gestational age, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:245570
Semantic Dementia
Dementia, Abulia ORPHA:100069
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, EEG with centrotemporal focal spike waves, Focal... OMIM:117100
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... OMIM:600669
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Interictal epileptiform activity, Generalized-onset seizu... ORPHA:101046
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, EEG abnormality OMIM:614115
Continuous Spikes And Waves During Sleep
Cognitive impairment, Dystonia, Focal aware seizure, Aggressive behavior, Typical absence seizure... ORPHA:725
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with focal sharp waves, Focal-onset seizure,... ORPHA:163721
Benign Familial Infantile Epilepsy
Interictal epileptiform activity, Focal motor seizure, Focal clonic seizure, Bilateral tonic-clon... ORPHA:306
Neuropathy, Hereditary Thermosensitive
Fever OMIM:602107
Lennox-Gastaut Syndrome
Atypical absence seizure, EEG abnormality, EEG with focal sharp slow waves, Atonic seizure, Hyper... ORPHA:2382
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Action tremor, EEG abnormality, Anxiety, Ataxia, Broad-based gait, EEG with po... OMIM:617665
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, EEG with spike-wave complexes (>3.5 Hz), Generalized... OMIM:607631
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Interictal epileptiform activity, Focal-onset seizure, Aggressive behavior, Microcephal... OMIM:619157
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, EEG with spik... ORPHA:139426
Lissencephaly 10
Agyria, Suicidal ideation, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic sei... OMIM:618873
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with polyspike wave complexes,... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with polyspike wave complexes,... OMIM:607681
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Hypsarrhythmia OMIM:616341
Myoclonic Epilepsy Of Unverricht And Lundborg
Interictal epileptiform activity, EEG with spike-wave complexes, EEG with polyspike wave complexe... OMIM:254800
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, EEG with polyspike wave com... OMIM:607682
Familial Focal Epilepsy With Variable Foci
EEG with focal epileptiform discharges, Deja vu aura, Focal aware seizure, Interictal EEG abnorma... ORPHA:98820
Generalized Epilepsy With Febrile Seizures-Plus
Cognitive impairment, Atonic seizure, Generalized-onset seizure, Generalized cerebral atrophy/hyp... ORPHA:36387
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Aggressive behavior, Progressive cerebellar ataxia, Microcephaly, Bipolar affecti... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
EEG abnormality, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal im... OMIM:617831
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (a... OMIM:609446
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Dravet Syndrome
Cerebral atrophy, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced s... OMIM:607208
Jeavons Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, Atonic seizure, Focal s... ORPHA:139431
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Generalized myoclonic seizure, Tremor, Focal-onset seizure, Inabilit... ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Abnormal cerebra... OMIM:618587
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Anxiety, Generalized myoclonic seizure, Hyperactivity, ... OMIM:271980
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wit... ORPHA:1941
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Unilateral Hemispheric Polymicrogyria
EEG with focal epileptiform discharges, Generalized myoclonic seizure, Focal-onset seizure, Bilat... ORPHA:101071
Neuropathy, Painful
Fever OMIM:256870
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Atonic seizure, Waddling gait, Generali... ORPHA:2590
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Anxiety, Hyperactivity, Genera... ORPHA:101039
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonic absence seizure, Increased theta frequency ... OMIM:619000
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Dystonia, Focal hemiclonic seizure, Myoclonic absence seizure, ... OMIM:619317
Pyridoxine-Dependent Epilepsy
EEG with generalized slow activity, Atonic seizure, Focal aware motor seizure, Focal-onset seizur... ORPHA:3006
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Dystonia, Absent septum pellucidum, Hypoplastic hippocampus, Emotional lability... ORPHA:101685
Myoclonic Epilepsy Of Infancy
EEG with irregular generalized spike and wave complexes, Photosensitive tonic-clonic seizure, Gen... ORPHA:86909
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Dravet Syndrome
Photosensitive myoclonic seizure, Cognitive impairment, Action tremor, Focal aware seizure, Febri... ORPHA:33069
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, EEG abnormality, Atonic seizure, Inability to walk, Gait ataxia, Generalized non-motor... OMIM:617810
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Normal interic... OMIM:607745
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, Atonic seizure, EEG with ir... ORPHA:1942
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Rasmussen Subacute Encephalitis
Cognitive impairment, Focal aware seizure, Subcortical cerebral atrophy, Epileptic spasm, EEG wit... ORPHA:1929
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with series of focal spikes, EEG with photoparoxysmal response, Aggressive behavior, Typical ... ORPHA:168491
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Waddling gait, Fever ORPHA:168621
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Perisylvian polymicrogyria, Hypoplasti... OMIM:619606
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Failure to thrive, Multifocal epileptiform discharges, Bilateral tonic-clonic... OMIM:609056
Episodic Ataxia, Type 5
Atypical absence seizure, EEG with generalized spikes, EEG with spike-wave complexes, Typical abs... OMIM:613855
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with burst suppression,... OMIM:619605
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Inability to walk, Ataxia, Infantile spasms, Microcephaly, Generalized myocloni... OMIM:619701
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Ataxia, Aggressive behavior, Irritability, Generalized non-motor (abs... ORPHA:98811
Unilateral Focal Polymicrogyria
Abnormality of somatosensory evoked potentials, Cerebral cortical hemiatrophy, Memory impairment,... ORPHA:268947
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Epileptic spasm... ORPHA:178469
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, EEG with irregular generalized spike a... ORPHA:1945
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Inability to walk, Aggressive behavior, Attention deficit hyperac... OMIM:619639
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure,... OMIM:611726
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
Behavioral Variant Of Frontotemporal Dementia
Memory impairment, Disinhibition, Inappropriate behavior, Mental deterioration, Emotional bluntin... ORPHA:275864
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, EEG with spike-wave comp... ORPHA:79137
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Bilateral tonic-clonic seizure, Depression, Dif... OMIM:619191
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Aggressive behavior, Microcephaly, Cortical dysplasia, Focal impaired awarenes... ORPHA:208441
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, EEG abnormality, Dystonia, Premature pubarche, Cryptorchidism, Abnormal periphe... ORPHA:457205
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Impulsivity OMIM:300615
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Difficulty walking, Generalized non-motor (absence) seizure, Seizure, Myo... OMIM:614018
New-Onset Refractory Status Epilepticus
EEG with generalized slow activity, Refractory status epilepticus, Focal aware motor seizure, Bil... ORPHA:363558
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Febrile seiz... ORPHA:307
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Bilateral Generalized Polymicrogyria
Dystonia, Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Dilation of lat... ORPHA:208447
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Microcephaly, Irritability, Delayed myelination, Seizure, Difficulty walking OMIM:617393
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, EEG with focal epileptiform discharges, Chin myoclonus, Cerebra... ORPHA:263516
Pick Disease Of Brain
Disinhibition, Emotional blunting, Inappropriate laughter, Apathy, Irritability, Frontotemporal d... OMIM:172700
Pyknoachondrogenesis
Stillbirth OMIM:265880
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:607876
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Cognitive impairment, Generalized-onset seizure, Psychomotor deterior... ORPHA:65683
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:618856
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Dystonia, Myoclonic absence seizure, Generalized myoclonic seizure, Ataxia, Bila... OMIM:617836
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Severe Canavan Disease
Inability to walk, Cerebral white matter atrophy, Irritability, Megalencephaly, Bilateral tonic-c... ORPHA:314911
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Microcephaly, Multifocal epileptiform discha... OMIM:618596
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior, Microcephaly, Bilateral tonic-clonic seizure, Genera... OMIM:300558
Angelman Syndrome
EEG abnormality, Aggressive behavior, Microcephaly, Infantile spasms, Tremor, Cerebral dysmyelina... ORPHA:72
Lafora Disease
Giant somatosensory evoked potentials, Depression, Atonic seizure, Bilateral tonic-clonic seizure... ORPHA:501
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, ... ORPHA:101070
Foxg1 Syndrome
Abnormal corpus callosum morphology, Cognitive impairment, Dystonia, Progressive microcephaly, Ag... ORPHA:561854
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Leukodystrophy, Leukoencephalopathy, Generalized non-motor (absence) seizure, Difficulty ... OMIM:618242
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Abnormal nervous system electrophysiology OMIM:601780
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cognitive impairment, T2 hypointense thalamus, Hyperintensity of cerebral white... ORPHA:1947
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Action tremor, Thin corpus callosum, Falls, ... OMIM:300423
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Dystonia, Focal-onset seizure, Microcephaly, Hypoplasia of the corpus callosum... OMIM:619616
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Hypoplasia of the corpus callosum, Seizu... OMIM:617771
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritability, Bilateral ... OMIM:618093
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Focal-onset seizure, Febrile seizure (within the age range of 3 months... ORPHA:289266
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Atypical... OMIM:619428
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Pontiac Fever
Fever ORPHA:99748
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cognitive impairment, Myoclonic spasms, Progressive language deterioration, Anx... ORPHA:79264
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Cognitive impairment, Polymicrogyria OMIM:300388
Developmental And Epileptic Encephalopathy 58
Inability to walk, Secondary microcephaly, Delayed myelination, Seizure, Optic atrophy, Status ep... OMIM:617830
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Inability to walk, Occipital cortical atrophy, Generalized tonic seizure, Multifo... ORPHA:411986
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, EEG with generalized epileptiform discharges, Fasting hyperinsulinemia... ORPHA:35878
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Atonic seizure, EEG with photoparoxysmal response, EEG with spike-wave ... OMIM:615744
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Generalized myoclonic seizure, Athetosis, Gait disturbance, Generalized non-moto... OMIM:618141
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Inab... OMIM:616645
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Frontotemporal Dementia
Disinhibition, Inappropriate laughter, Apathy, Irritability, Inappropriate sexual behavior, Front... OMIM:600274
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cognitive impairment, Dementia, Mental deterioration, Aggressive behavior, Apathy, Emotional labi... ORPHA:199354
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Tonic seizure, Dystonia, Progressive microcephaly, Cryptorchidism, Self-injurio... OMIM:618917
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Atonic seizure, Generalized myoclonic seizure, Inappropriate crying, ... ORPHA:79351
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Developmental And Epileptic Encephalopathy 18
EEG abnormality, Generalized-onset seizure, Focal-onset seizure, Thick corpus callosum, Generaliz... OMIM:615476
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Severe demyelination of the white matter, Gait ataxia, Hyp... ORPHA:488635
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dystonia, Resting tremor, Intention tremor, Anxiety, Dilated third ventricle, Panic attack, Ataxi... OMIM:619725
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Focal-onset seizure, Interictal EEG abnormality, Limb myoclonus, E... ORPHA:352582
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612964
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Dystonia, Self-injurious behavior, Inability to w... OMIM:618760
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Puberty and gonadal disorders, Dystonia, Delayed peripheral myelination, Waddli... ORPHA:464282
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Torticollis, Bilateral tonic-clonic seizure, Tremor OMIM:618425
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Gilbert Syndrome
Dehydration OMIM:143500
Pontocerebellar Hypoplasia, Type 14
Dystonia, Agenesis of corpus callosum, Focal-onset seizure, Simplified gyral pattern, Delayed CNS... OMIM:619301
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Dysmetria, Intention tremor, Ataxia, Microcephaly, Bilateral tonic-clonic seizu... OMIM:618170
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Mental deterioration, Dystonia OMIM:104290
Satb2-Associated Syndrome Due To A Pathogenic Variant
Happy demeanor, Typical absence seizure, Delayed myelination, Seizure, Abnormal cerebral white ma... ORPHA:576283
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Primary amenorrhea, Memory impairment, Leukoencephalopathy, Unstea... OMIM:603896
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, EEG with burst suppression, Generalized tonic seizure, Epileptic s... OMIM:612164
4H Leukodystrophy
Hypogonadotropic hypogonadism, Dysmetria, Dystonia, Dysdiadochokinesis, Abnormality of thyroid ph... ORPHA:289494
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Aggressive behavior, Microcephaly, Epileptic spasm, Happy demeanor, Gait ataxia, Fo... OMIM:619580
Premature Ovarian Failure 6
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612310
Early Infantile Epileptic Encephalopathy
EEG abnormality, Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Microce... ORPHA:1934
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Atonic seizure, Self-injurious behavior, Hyperactivity, Generalized myoclonic seizure, ... ORPHA:382
Dk1-Cdg
EEG with generalized slow activity, Focal-onset seizure, Failure to thrive, Multifocal epileptifo... ORPHA:91131
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Focal-onset seizure, Partial agenesis of the corpus callos... OMIM:619302
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Cerebral atrophy, Dystonia, Generalized-onset seizure, Hy... ORPHA:88616
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Aggressive behavior, Self-mutilation, Thin corpus callosum, Focal impaired awar... OMIM:616521
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema, Long eyelashes OMIM:616069
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Macrophagic Myofasciitis
Fever ORPHA:592
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Anxiety, Decreased testicular size, Microcephaly, Self-mutilation, Gait disturbance, Bilateral to... ORPHA:457240
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, EEG abnormality, Self-injurious behavior, Generalized myocloni... ORPHA:457351
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Folinic Acid-Responsive Seizures
EEG with generalized slow activity, Dystonia, Atonic seizure, Generalized myoclonic seizure, Atax... ORPHA:79097
Sarcosinemia
Emotional lability, Bilateral tonic-clonic seizure, Optic atrophy, Ataxia ORPHA:3129
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Hypsarrhythmia, EEG with burst suppression, Focal impaired awareness seizure... OMIM:301058
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive in infancy OMIM:619065
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Microcephaly, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Generalized non-... OMIM:616281
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Cerebral atrophy, Ataxia, Secondary microcephaly, Delayed myelination, Generali... OMIM:613839
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Ataxia, Microcephaly, Eating-induced seizur... ORPHA:544254
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Dystonia, Unsteady gait, Gait ataxia, Bilateral tonic-clonic seizure, Falls OMIM:203740
Mehmo Syndrome
Delayed puberty, Inability to walk, Aggressive behavior, Gait ataxia, Microcephaly, Male hypogona... OMIM:300148
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, EEG abnormality, Gait ataxia, Difficulty walking, Bilateral tonic-clonic seizure, Seiz... ORPHA:529665
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Spastic gait, Hand tremor, Hypoplasia of the corpus callosum ORPHA:401840
Chronic Hiccup
Dehydration ORPHA:396
Liang-Wang Syndrome
Cerebral atrophy, Dystonia, Ataxia, Generalized non-motor (absence) seizure, Status epilepticus OMIM:618729
Dopa-Responsive Dystonia
Hyperhidrosis, Dystonia, Generalized dystonia, Oculogyric crisis, Anxiety, Leg dystonia, Tremor, ... ORPHA:255
Cln5 Disease
Aggressive behavior, Tremor, Dysmetria, Hyperactivity, Focal-onset seizure, EEG with spike-wave c... ORPHA:228360
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Lethargy ORPHA:28
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Hyperprolinemia Type 2
Atonic seizure, Generalized-onset seizure, Anxiety, Aggressive behavior, Febrile seizure (within ... ORPHA:79101
Harel-Yoon Syndrome
Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Optic atrophy OMIM:617183
Lissencephaly Due To Lis1 Mutation
Agyria, Abnormal corpus callosum morphology, Opisthotonus, Progressive microcephaly, Thick cerebr... ORPHA:95232
Infantile Cerebellar-Retinal Degeneration
Progressive microcephaly, Athetosis, Demyelinating peripheral neuropathy, Focal-onset seizure, At... OMIM:614559
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:273250
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperactivity, Optic nerve hypoplasia, Inappropriate laughter, Self-mu... ORPHA:363686
Tuberculosis
Fever ORPHA:3389
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
EEG abnormality, EEG with generalized epileptiform discharges, Failure to thrive, Multifocal epil... ORPHA:488613
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Cognitive impairment, Interictal epileptiform activity, Anxiety, Increased the... ORPHA:98784
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysmetria, Dystonia, EEG abnormality, Generalized myoclonic seizure, Demyelinating peripheral neu... ORPHA:313772
Cyclic Neutropenia
Fever OMIM:162800
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:400044
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Fatty Acid Hydroxylase-Associated Neurodegeneration
Hypoplasia of the corpus callosum, Generalized dystonia, Anxiety, Loss of ability to walk, Mental... ORPHA:329308
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypoglycemic seizures, Hypothyroidism, Panhypopituitarism, Reduced circula... OMIM:262600
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure, Postural tremor, Gait disturbance ORPHA:100988
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Basal ganglia cysts, Basal ganglia necrosis, Microcephaly, Dilation of lateral ventricl... ORPHA:79243
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Anxiety, Ataxia, Cerebral cortical atrophy, Premature ovarian insufficiency, Depressi... OMIM:619425
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Microcephaly, Generalized non-motor (absence) seizure OMIM:615553
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonic absence seizure, Anxiety, Typical absence s... ORPHA:64280
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure, Precocious puberty OMIM:300801
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Amenorrhea, Pituitary null cell aden... ORPHA:251937
Hyperchlorhidrosis, Isolated
Dehydration, Hypernatremic dehydration OMIM:143860
Perrault Syndrome 1
Primary amenorrhea, Intention tremor, Ataxia, Gait ataxia, Increased circulating gonadotropin level OMIM:233400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Atypical absence seizure, EEG abnormality, Cessation of h... ORPHA:98795
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Tonic seizure, Atonic seizure, Central hypothyroidism, Anxiety, Hyperactivity, Gener... OMIM:300912
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Microcephaly, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age r... OMIM:618482
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Decreased serum testosterone concentration, Decreased serum estr... ORPHA:168563
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... OMIM:617924
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Febri... ORPHA:3044
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Dystonia, Generalized myoclonic seizure, Inability to walk, Ataxia, Seizure, Mi... OMIM:616756
Tay-Sachs Disease
Dysmetria, Dystonia, Memory impairment, Anxiety, Hypointensity of cerebral white matter on MRI, I... ORPHA:845
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Cognitive impairment, Generalized myoclonic seizure, Mental deterioration, Focal-onset seizure, A... ORPHA:395
Spastic Ataxia 5, Autosomal Recessive
Cognitive impairment, Dystonia, Dysmetria, Generalized myoclonic seizure, Ataxia, Dysdiadochokine... OMIM:614487
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Low frustration tolerance, Interictal epileptiform activity, ... ORPHA:163681
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Generalized dystonia, Hyperintensity of cerebral white matter on MRI, Ataxia, M... OMIM:272300
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
X-Linked Intellectual Disability, Hedera Type
Hypoplasia of the corpus callosum, Action tremor, Dysmetria, Atonic seizure, Inability to walk, U... ORPHA:93952
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Abnormal corpus callosum morphology, Status epilepticus, Mental deterioration, ... ORPHA:442835
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Dementia, Generalized myoclonic seizure, Degeneration of anterior horn... OMIM:159950
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Inability to walk, Seizure, Optic atrophy OMIM:618324
Developmental And Epileptic Encephalopathy 16
Cerebral atrophy, Dystonia, Status epilepticus, Microcephaly, Secondary microcephaly, Delayed mye... OMIM:615338
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tonic seizure, Cryptorchidism, Anxiety, Inability to walk, Ataxia, Microcephaly, Hostility, Depre... OMIM:300260
Febrile Seizures, Familial, 9
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... OMIM:611634
Meningioma
Focal T2 hypointense thalamic lesion, Cognitive impairment, Decreased serum estradiol, Increased ... ORPHA:2495
Classic Galactosemia
Decreased fertility in females, Action tremor, Primary amenorrhea, Dystonia, Delayed puberty, Cry... ORPHA:79239
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... ORPHA:2410
X-Linked Non-Syndromic Intellectual Disability
Facial palsy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, A... ORPHA:777
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity... ORPHA:3077
Kohlschutter-Tonz Syndrome-Like
EEG abnormality, Secondary microcephaly, Inability to walk, Focal-onset seizure, Focal myoclonic ... OMIM:619229
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Panhypopituit... ORPHA:95619
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Anxiety, Focal-onset seizure, Paroxysmal dystonia, Normal interictal EEG OMIM:602066
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
EEG with generalized slow activity, EEG with focal epileptiform discharges, Interictal EEG abnorm... ORPHA:544503
Childhood Disintegrative Disorder
Progressive language deterioration, Anxiety, Dementia, Motor deterioration, Mental deterioration,... ORPHA:168782
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... ORPHA:99429
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Bi... ORPHA:250972
Nicolaides-Baraitser Syndrome
Abnormal testis morphology, Cryptorchidism, Microcephaly, Epileptic spasm, Generalized non-motor ... ORPHA:3051
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cerebral white matter atrophy, Microcephaly, Truncal ataxia, Bilateral tonic-clonic seizure, Wadd... ORPHA:369840
Sandhoff Disease
Orthostatic hypotension, Hypohidrosis, CNS hypomyelination, Ataxia, Impotence, Progressive psycho... OMIM:268800
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased serum testosterone conc... OMIM:305400
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Hyperactivity, Aggressive behavior, Microcephaly, Delayed myelinatio... OMIM:615286
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cognitive impairment, Myoclonic spasms, Dystonia, Generalized-onset seizure, Dy... ORPHA:79263
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Panhypophysitis
Orthostatic hypotension, Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto th... ORPHA:95513
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Transient Neonatal Diabetes Mellitus
Dehydration, Umbilical hernia ORPHA:99886
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Adenohypophysitis
Gonadotropin deficiency, Orthostatic hypotension, Abnormal size of pituitary gland, Decreased fem... ORPHA:95512
Central Diabetes Insipidus
Dehydration, Lethargy ORPHA:178029
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebral atrophy, Action tremor, Dystonia, Atonic seizure, EEG abnormality, Optic atrophy, Fatiga... ORPHA:404454
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Ring Chromosome 21 Syndrome
Infertility, EEG abnormality, Diabetes insipidus, Amenorrhea, Azoospermia, Generalized myoclonic ... ORPHA:1445
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical hemiatrophy, Agenesis of corpus callosum, Abnormal testis morphology, Cryptorch... ORPHA:96147
Melas
Hypothyroidism, EEG abnormality, Diabetes mellitus, Bipolar affective disorder, Depression, Focal... ORPHA:550
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Agenesis of corpus callosum, Cerebral cortical atrophy, Limb tremor, Abnormal myeli... ORPHA:401820
Alpers-Huttenlocher Syndrome
Ataxia, Focal-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
47,Xyy Syndrome
Azoospermia, Cryptorchidism, Hyperactivity, Increased serum testosterone level, Oligospermia, Mac... ORPHA:8
Isovaleric Acidemia
Dehydration, Lethargy OMIM:243500
Myoclonic Epilepsy Of Lafora
Dementia, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Lafora ... OMIM:254780
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, My... OMIM:618559
Spinocerebellar Ataxia Type 10
Kinetic tremor, Dysmetria, Generalized-onset seizure, Intention tremor, Aggressive behavior, Unst... ORPHA:98761
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Memory impairment, Decreased female li... ORPHA:251623
Familial Renal Glucosuria
Dehydration ORPHA:69076
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Ataxia, Impaired tandem gait, Bilateral tonic-clonic seizure with generalized onset, I... OMIM:619028
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Episodic ataxia, Bilateral tonic-clonic seizure, Dystonia ORPHA:53583
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure, Abnormal periventricular white matter morphology OMIM:618992
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Decreased female libido, Unhappy demeanor, Anxiety, Anhe... ORPHA:96369
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Cerebral white matter atrophy, Ataxia, Abnormality of thalamus mor... ORPHA:435638
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Clonic seizure, Seizure, Myo... OMIM:610539
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Cognitive impairment, Generalized-onset seizu... ORPHA:268940
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Progressive microcephaly, Agenesis of corpus callosum, Hyperintensity of cer... ORPHA:481152
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Ataxia, Lethargy ORPHA:27
Amish Lethal Microcephaly
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Irritability, Bilateral tonic-clonic se... ORPHA:99742
Hypercalcemia, Infantile, 1
Dehydration, Lethargy OMIM:143880
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Chronic Recurrent Multifocal Osteomyelitis
Fever OMIM:259680
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Microcephaly, Irritability, Optic disc pallor, Delayed CNS myelination, Hypoplasia of the corpus ... OMIM:619076
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Dpm1-Cdg
Cerebral atrophy, Atonic seizure, Hypoplasia of the frontal lobes, Generalized myoclonic seizure,... ORPHA:79322
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
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Seizure, Atonic seizure OMIM:610293
Proteasome-Associated Autoinflammatory Syndrome 5
Fever OMIM:619175
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Perrault Syndrome 4
Cognitive impairment, Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Gait a... OMIM:615300
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Myoclonic spasms, Hypocalcemic seizures, Pseudohypoparathyroidism, Pituit... ORPHA:79444
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Cognitive impairment, Hypothyroidism, Pancreatitis, Oligomenorrhea, Unsteady gait, C... ORPHA:412057
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Azoospermia, ... ORPHA:90797
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Primary gonadal insufficiency, Primary amenorrhea, Delayed pubert... ORPHA:90796
Galactosemia
Decreased fertility, Cognitive impairment, Primary amenorrhea, Dystonia, Action tremor, Cryptorch... ORPHA:352
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Microcepha... ORPHA:163976
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Lethargy ORPHA:79312
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Opt... OMIM:618770
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Orthostatic hypotension, Abnormal size of pi... ORPHA:91355
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Partial agenesis of the c... ORPHA:85179
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618419
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Happy demeanor, Dystonia, Unsteady gait, Gait ataxia, Microcephaly, Delayed myelination, Seizure,... OMIM:617807
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Agenesis of corpus callosum, Inappropriate laughter, Microcephaly, Delayed CNS ... OMIM:615802
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Decreased serum estradiol, Ataxia, Secondary amenorrhea, Microcephaly, Premat... ORPHA:243
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Cryptorchidism, Inability to walk, Inappropriate crying, Focal-onset seizure, A... OMIM:618143
Ane Syndrome
Motor neuron atrophy, Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, ... ORPHA:157954
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Small for gestational age ORPHA:453510
Choreoacanthocytosis
Abnormal hippocampus morphology, Aggressive behavior, Apathy, Hair-pulling, Depression, Dilation ... ORPHA:2388
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Decreased fertility ... ORPHA:2965
Huntington Disease-Like 1
Dysmetria, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing ORPHA:157941
49,Xyyyy Syndrome
Primary gonadal insufficiency, Low frustration tolerance, Abnormality of the testis size, Azoospe... ORPHA:99330
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Small for gestational age OMIM:619278
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Dementia, Diabetes mellitus OMIM:540000
49,Xxxyy Syndrome
Primary gonadal insufficiency, Low frustration tolerance, Abnormality of the testis size, Decreas... ORPHA:261534
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Ataxia, Febrile seizure (within the age range of 3 months to ... ORPHA:42
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Agenesis of corpus callosum, I... ORPHA:289548
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Dystonia, Optic atrophy, Generalized myoclonic seizure, Ataxia, Infantile ... ORPHA:480864
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Adrenal insufficiency, Primary gonadal insufficiency, Primary ame... ORPHA:251510
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Agenesis of corpus callosum, I... ORPHA:168558
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Precocious puberty, Head-banging OMIM:619356
Enteric Anendocrinosis
Dehydration ORPHA:83620
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Abnormal myelination, Seizure, Optic atrophy, Abnormal cerebral ... ORPHA:352682
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Reticular Dysgenesis
Dehydration ORPHA:33355
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
CNS hypomyelination, Inability to walk, Ataxia, Microcephaly, Generalized tonic seizure, Diffuse ... OMIM:617193
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:95699
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Japanese Encephalitis
Cognitive impairment, Dystonia, Opisthotonus, EEG abnormality, Tremor, Cerebral edema, Interictal... ORPHA:79139
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Hypopituitarism, Elevated circul... ORPHA:95613
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Lissencephaly 8
Microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Abnormal myelination, Polymicrogy... OMIM:617255
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Myoclonic spasms, Hypocalcemic seizures, Pseudohypoparathyroidism, Pituit... ORPHA:79443
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Chordee, Cryptorchidism, Posterior pituitary hypoplasia, Aggressive behavior, Feb... ORPHA:268261
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Familial Cold Urticaria
Dehydration ORPHA:47045
Progressive Supranuclear Palsy
Cognitive impairment, Dystonia, Memory impairment, Blepharospasm, Abnormal synaptic transmission,... ORPHA:683
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Septo-optic dysplasia, Hypogonadotropic hypogonadism, Ectopic anterior pituitary gla... ORPHA:95494
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Lethargy OMIM:251000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Multicentric Reticulohistiocytosis
Fever ORPHA:139436
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Focal cortical dysplasia, Progressive language deterioration, Generalized-onset ... OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Generalized myoclonic seizure, Inability to walk, Focal-onset seizure,... OMIM:617188
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Abnormal posturing, Lethargy OMIM:614857
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Cryptorchidism, Athetosis, Focal-onset seizure, Aggressive behavior,... OMIM:619435
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Adrenal hyperplasia, Athetosis, Focal myoclonic seizure, Focal impaired aware... ORPHA:369929
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Hand tremor, Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Polycystic ovaries, Elevated circulating... ORPHA:572333
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Status epilepticus, Aggressive behavior, Self-mutilation, Hypoplasia of the corpu... ORPHA:364028
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
African Trypanosomiasis
Infertility, Aggressive behavior, Papilledema, Apathy, Impotence, Abnormal growth hormone level, ... ORPHA:3385
Netherton Syndrome
Abnormal hair morphology, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Spar... ORPHA:634
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Microcephaly, EEG abnormality, Decreased response to growth hormone stimu... ORPHA:1261
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, EEG abnormality, Secondary microcephaly, Hyperactivity, Ataxia, Inappropriate lau... ORPHA:98794
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Inability to walk, Abnormal posturing, Tip-toe gait ORPHA:216866
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Focal-onset seizure, Ataxia, Gait ataxia, Microcephaly, Bilateral tonic-clonic seizure with gener... OMIM:619092
Alternating Hemiplegia Of Childhood
Dystonia, Abnormal autonomic nervous system physiology, Aggressive behavior, Ataxia, Emotional la... ORPHA:2131
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163971
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Decreased amplitude of sensory action potentials, Decreased nerve co... OMIM:618733
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Anxiety, Aggressive behavior, Febrile seizure (within the age range of 3... ORPHA:466943
Developmental And Epileptic Encephalopathy 44
Cerebral atrophy, Dystonia, Athetosis, Irritability, Hypoplasia of the corpus callosum, Delayed m... OMIM:617132
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Ataxia OMIM:560000
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Cognitive impairment, Inability to walk, Focal-onset seizure, Lissencephaly, Pach... ORPHA:258
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Generalized-onset seizure, Hashimoto thyroiditis, Anxiety, Abnormal cerebral whit... ORPHA:83601
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Primary microcep... ORPHA:496641
Hyperphosphatasia-Intellectual Disability Syndrome
Supernumerary nipple, Aganglionic megacolon, Ataxia, EEG with spike-wave complexes, EEG with poly... ORPHA:247262
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of temperature regulation ORPHA:98757
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder,... OMIM:601853
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Broad-based gait, Secondary microcephaly OMIM:616351
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Cryptorchidism, Anxiety, Gait disturbance, Decreased response ... OMIM:609757
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
CNS hypomyelination, Corpus callosum atrophy, Cerebral hypomyelination, Secondary microcephaly, B... OMIM:608809
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
Hermansky-Pudlak Syndrome 10
Cerebral atrophy, EEG abnormality, Dystonia, Focal myoclonic seizure, Microcephaly, Delayed CNS m... OMIM:617050
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Abnormality of... ORPHA:300373
Lamellar Ichthyosis
Dehydration, Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:313
Autosomal Agammaglobulinemia
Dehydration, Cellulitis ORPHA:33110
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Dystonia, Athetosis, Generalized tonic seizure, Hypoplasia of the corpus callos... OMIM:615473
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Cognitive impairment, Abnormal caudate nucleus morphology, Generalized-onset seizure, Aki... ORPHA:2148
Oliver-Mcfarlane Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation t... OMIM:275400
Propionic Acidemia
Dehydration, Lethargy OMIM:606054
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized-onset ... OMIM:615501
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Athetosis, Gait disturbance, Delayed myelination, Seizure, Optic atrophy, Myoc... OMIM:618241
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Optic neuropathy, Abnormal autonomic nervous system physiology, Primary microce... ORPHA:478029
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Multifoc... ORPHA:369837
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure OMIM:169400
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Gait ataxia, Gait disturbance, Titubation, Abnormal posturing ORPHA:225147
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Optic atrophy, Segmental peripheral demyelination/remyelination, Generalized myoclonic ... ORPHA:255210
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Multifocal cerebral white matter a... ORPHA:488627
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:400045
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Mental deterioration, Ataxia, Microcephaly, Leukodystrophy, Scissor gait, Bilat... OMIM:278800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Borderline personality disorder, Self-injurious behavior, Anxiety, Aggressive behavior, Typical a... ORPHA:466950
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Cystinosis
Dehydration, Gait disturbance ORPHA:213
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Secondary microcephaly, Hyperactivity, Primary microcephaly, Irritability, Cere... ORPHA:447997
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebral atrophy, Dysmetria, Dystonia, Athetosis, Ataxia, Aggressive behavior, Delayed myelinatio... OMIM:617710
Pontocerebellar Hypoplasia, Type 2E
Cerebral atrophy, Tonic seizure, Opisthotonus, Progressive microcephaly, Optic atrophy, Microceph... OMIM:615851
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Arthrogryposis multiplex congenita OMIM:208085
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Diabetes insipidus, Optic disc pallor, Hypoplasia of the corpus callosum, Bilateral tonic-clonic ... ORPHA:423479
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Srd5A3-Cdg
Hypothyroidism, Ataxia, Decreased response to growth hormone stimulation test, Seizure, Optic atr... ORPHA:324737
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pineal cyst, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Microcep... ORPHA:513456
Central Precocious Puberty
Premature thelarche, Hypothalamic hamartoma, Increased circulating gonadotropin level, Isosexual ... ORPHA:759
Galloway-Mowat Syndrome 6
Hypothyroidism, Paroxysmal bursts of laughter, Microcephaly, Decreased response to growth hormone... OMIM:618347
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebral atrophy, Hypothyroidism, Interictal epileptiform activity, CNS hypomyelination, Panhypop... OMIM:618922
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Malignant hyperthermia OMIM:217150
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Hypoplasia of the corpus callosum, Hypohidrosis, Diffuse demyelination of the cer... ORPHA:363528
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... OMIM:262400
Harlequin Ichthyosis