TaoMedAI/RareMedData huggingface dataset:
Gene: SCN8A
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: SCN8A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Dysarthria (HP:0001260)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
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: SCN8A
Phenotype: Esophoria (HP:0025312)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Experiential epileptic aura (HP:0012002)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Dystonia (HP:0001332)
Associated disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Gene: SCN8A
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
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: SCN8A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Gene: SCN8A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 (OMIM:617080)
Gene: SCN8A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Dysmetria (HP:0001310)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
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: SCN8A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 (OMIM:617080)
Gene: SCN8A
Phenotype: Gait ataxia (HP:0002066)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Chorea (HP:0002072)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
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: SCN8A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Status epilepticus (HP:0002133)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
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: SCN8A
Phenotype: Apnea (HP:0002104)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 (OMIM:617080)
Gene: SCN8A
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 (OMIM:617080)
Gene: SCN8A
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
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: SCN8A
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Normal interictal EEG (HP:0002372)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Nonprogressive (HP:0003680)
Associated disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Gene: SCN8A
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: SCN8A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
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: SCN8A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 (OMIM:617080)
Gene: SCN8A
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Athetosis (HP:0002305)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Amblyopia (HP:0000646)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
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: SCN8A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
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: SCN8A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Gene: SCN8A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
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: SCN8A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
Phenotype: Childhood onset (HP:0011463)
Associated disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 (OMIM:617080)
Gene: SCN8A
Phenotype: Childhood onset (HP:0011463)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Gene: SCN8A
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Cyanosis (HP:0000961)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
Phenotype: Eyelid myoclonia seizure (HP:0032678)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
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: SCN8A
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Neonatal electro-clinical seizure with behavior arrest (HP:0032823)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Focal impaired awareness autonomic seizure (HP:0032755)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
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: SCN8A
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Focal head nodding automatism seizure (HP:0032906)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Strabismus (HP:0000486)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
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: SCN8A
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: SCN8A
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: SCN8A
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)