TaoMedAI/RareMedData huggingface dataset:
Gene: GABRG2
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Action tremor (HP:0002345)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Cyanotic episode (HP:0200048)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Tibial torsion (HP:0100694)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Incoordination (HP:0002311)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Drooling (HP:0002307)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Drooling (HP:0002307)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Jerky head movements (HP:0006961)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Limited knee extension (HP:0003066)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Anxiety (HP:0000739)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Anxiety (HP:0000739)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Anxiety (HP:0000739)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Short attention span (HP:0000736)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Short attention span (HP:0000736)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Depression (HP:0000716)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Depression (HP:0000716)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Emotional lability (HP:0000712)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Facial tics (HP:0011468)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Pallor (HP:0000980)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Pallor (HP:0000980)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Pes valgus (HP:0008081)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Uncontrolled eye movements (HP:0007738)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Hyperventilation (HP:0002883)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Punding (HP:0030218)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Limited neck range of motion (HP:0000466)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Pes planus (HP:0001763)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: EEG with centrotemporal focal spike waves (HP:0012557)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Dysesthesia (HP:0012534)
Associated disease: BECTS; Rolandic epilepsy; Self-limited epilepsy with centrotemporal spikes; SeLECTS; Benign rolandic epilepsy; BECRS; Benign epilepsy of childhood with centrotemporal spikes; Centrotemporal epilepsy; Benign familial epilepsy of childhood with rolandic spikes; BRE (ORPHA:1945)
Gene: GABRG2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GAD1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Death in childhood (HP:0003819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Neonatal death (HP:0003811)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Asymmetry of the ears (HP:0010722)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)