TaoMedAI/RareMedData huggingface dataset:
Gene: SYNGAP1
Phenotype: Tremor (HP:0001337)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Tremor (HP:0001337)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
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: SYNGAP1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Wide mouth (HP:0000154)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Wide mouth (HP:0000154)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
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: SYNGAP1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Frontal balding (HP:0002292)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
Phenotype: Poor coordination (HP:0002370)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Abnormality of pain sensation (HP:0010832)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
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: SYNGAP1
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: SYNGAP1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
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: SYNGAP1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Abnormal subarachnoid space morphology (HP:0012703)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Anteverted ears (HP:0040080)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Abnormal tongue physiology (HP:0030810)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Long face (HP:0000276)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: High palate (HP:0000218)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
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: SYNGAP1
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: SYNGAP1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Triangular face (HP:0000325)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Macrotia (HP:0000400)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SYNGAP1-related DEE; SYNGAP1-related developmental and epileptic encephalopathy (ORPHA:544254)
Gene: SYNGAP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
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: SYNGAP1
Phenotype: Torticollis (HP:0000473)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
Gene: SYNGAP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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: SYNGAP1
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: SYNGAP1
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: SYNGAP1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SYNGAP1
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)