TaoMedAI/RareMedData huggingface dataset:
Gene: GABRA5
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: GABRA5
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: GABRB1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Gene: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
Phenotype: Lethargy (HP:0001254)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
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: GABRB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
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: GABRB2
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
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)
Gene: GABRB2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
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: GABRB2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Gene: GABRB2
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: GABRB2
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: GABRB2
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: GABRB2
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: GABRB3
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Falls (HP:0002527)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 (OMIM:612269)
Gene: GABRB3
Phenotype: Personality disorder (HP:0012075)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 (OMIM:612269)
Gene: GABRB3
Phenotype: Myoclonus (HP:0001336)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 (OMIM:612269)
Gene: GABRB3
Phenotype: Dyslexia (HP:0010522)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Impulsivity (HP:0100710)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Vertigo (HP:0002321)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Jerky head movements (HP:0006961)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Irritability (HP:0000737)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Anxiety (HP:0000739)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Apathy (HP:0000741)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Depression (HP:0000716)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Psychosis (HP:0000709)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Pallor (HP:0000980)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Uncontrolled eye movements (HP:0007738)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Hyperventilation (HP:0002883)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: GABRB3
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Punding (HP:0030218)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRB3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Gene: GABRB3
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Pyknolepsy; Childhood absence epilepsy (ORPHA:64280)
Gene: GABRD
Phenotype: Brachydactyly (HP:0001156)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)