TaoMedAI/RareMedData huggingface dataset:
Gene: GABRD
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Pointed chin (HP:0000307)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
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: GABRD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Annular pancreas (HP:0001734)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Strabismus (HP:0000486)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: GABRD
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Short foot (HP:0001773)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRD
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Cataract (HP:0000518)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Visual impairment (HP:0000505)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRD
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: GABRG2
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Atypical absence seizure (HP:0007270)
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: Atypical absence seizure (HP:0007270)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Ataxia (HP:0001251)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Focal-onset seizure (HP:0007359)
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 hemifacial clonic seizure (HP:0007332)
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: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
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: Cortical dysplasia (HP:0002539)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Specific learning disability (HP:0001328)
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: Photosensitive myoclonic seizure (HP:0001327)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
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: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Tremor (HP:0001337)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Laryngospasm (HP:0025425)
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: Floppy infant (HP:0008947)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Talipes valgus (HP:0004684)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Rigidity (HP:0002063)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Migraine (HP:0002076)
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: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Sleep apnea (HP:0010535)
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: Dyslexia (HP:0010522)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Paresthesia (HP:0003401)
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: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRG2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
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: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABRG2
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: GABRG2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Gene: GABRG2
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: GABRG2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Gene: GABRG2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)