TaoMedAI/RareMedData huggingface dataset:
Gene: CHAT
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHAT
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Gene: CHAT
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: CHD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Seizure (HP:0001250)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Abnormal fingertip morphology (HP:0001211)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Autism (HP:0000717)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Allergy (HP:0012393)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Pointed chin (HP:0000307)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: PILAROWSKI-BJORNSSON SYNDROME (OMIM:617682)
Gene: CHD1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome; Pilarowski-Bjornsson syndrome (ORPHA:529965)
Gene: CHD2
Phenotype: Syndactyly (HP:0001159)
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: CHD2
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
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: CHD2
Phenotype: Thick nasal alae (HP:0009928)
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: CHD2
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Abnormal pyramidal sign (HP:0007256)
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: CHD2
Phenotype: Visually-induced seizure (HP:0020216)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Hypotonia (HP:0001252)
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: CHD2
Phenotype: Ataxia (HP:0001251)
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: CHD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Intellectual disability (HP:0001249)
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: CHD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Global developmental delay (HP:0001263)
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: CHD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Brain imaging abnormality (HP:0410263)
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: CHD2
Phenotype: Abnormal emotional state (HP:0100851)
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: CHD2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Focal-onset seizure (HP:0007359)
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: CHD2
Phenotype: Falls (HP:0002527)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Personality disorder (HP:0012075)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: EEG with generalized spikes (HP:0012000)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
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: CHD2
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: CHD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
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: CHD2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
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: CHD2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
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: CHD2
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: CHD2
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: CHD2
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: CHD2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Vertigo (HP:0002321)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
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: CHD2
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
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: CHD2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
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: CHD2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
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: CHD2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
Phenotype: Irritability (HP:0000737)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
Phenotype: Apathy (HP:0000741)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
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: CHD2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Psychosis (HP:0000709)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
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: CHD2
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: CHD2
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: CHD2
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: CHD2
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: CHD2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 (OMIM:615369)
Gene: CHD2
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: CHD2
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: CHD2
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)