TaoMedAI/RareMedData huggingface dataset:
Gene: GABRA3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Urinary retention (HP:0000016)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Tremor (HP:0001337)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Cleft palate (HP:0000175)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Constipation (HP:0002019)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Thyrotoxicosis with diffuse goiter (HP:0011784)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Thyrotoxicosis with toxic multinodular goiter (HP:0011785)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Thyrotoxicosis with toxic single thyroid nodule (HP:0011786)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Paralysis (HP:0003470)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Transient hypophosphatemia (HP:0008285)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Graves disease (HP:0100647)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Nystagmus (HP:0000639)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Palpitations (HP:0001962)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Synophrys (HP:0000664)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Episodic hypokalemia (HP:0012726)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Long nose (HP:0003189)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Retrognathia (HP:0000278)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: High palate (HP:0000218)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Obesity (HP:0001513)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Decreased urinary potassium (HP:0012364)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Low-set ears (HP:0000369)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Micrognathia (HP:0000347)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Long neck (HP:0000472)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Short neck (HP:0000470)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Protruding ear (HP:0000411)
Associated disease: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES (OMIM:301091)
Gene: GABRA3
Phenotype: Weight loss (HP:0001824)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA3
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: GABRA5
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Autism (HP:0000717)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Migrating focal seizure (HP:0032786)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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: GABRA5
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: GABRA5
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Gene: GABRA5
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: GABRA5
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)