About: SYNGAP1-related intellectual disability

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SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	SYNGAP1-related intellectual disability (en)
rdfs:comment	SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait. (en)
dcterms:subject	Learning disabilities Rare syndromes Syndromes affecting the nervous system Neurological disorders Disorders causing seizures
Wikipage page ID	64591674 (xsd:integer)
Wikipage revision ID	1093295789 (xsd:integer)
Link from a Wikipage to another Wikipage	Electroencephalography Encephalopathy Epilepsy MIND Institute Mutation MAPK/ERK pathway Ankle-foot orthoses Mosaicism Antisense therapy Applied behavior analysis Richard L. Huganir University of California, Davis Infant Penetrance Protein-truncating variants Gene expression Generalized epilepsy Generalized tonic–clonic seizure Genetic disorder Genetic testing Epilepsy Cortex (anatomy) Angelman syndrome Magnetic resonance imaging Simons Foundation Autism Research Initiative Ketogenic diet Pervasive developmental disorder Point mutation Microdeletion syndrome Wheelchair Autism Autosomal dominant Cerebral palsy Tuberous sclerosis Gait Johns Hopkins School of Medicine Absence seizure Learning disabilities Central nervous system Chromosome 6 Global developmental delay Haploinsufficiency Hippocampus Doose syndrome Lennox–Gastaut syndrome Protein Rett syndrome Rare syndromes Syndromes affecting the nervous system AAC device Gross motor skill Heterozygous Atonic seizure Hypotonia Jeavons syndrome Neurological disorders Disorders causing seizures Cognitive development Whole exome sequencing Missense mutation Reflex seizure Physical therapy Antisense oligonucleotide therapy Intellectual disability Occupational therapy Sensory processing disorder Speech and Language Therapy Nonverbal communication Photosensitivity in humans Simons Foundation SYNGAP1 West Syndrome Occipital region Chromosomal microarray analysis Behavioural problems Gastrostomy tube Sleep problems Autism-spectrum disorder Myoclonic jerks Single-gene disorder Infantile spasms Balanced translocation Loss of function Anti-epileptic drugs Strollers
Link from a Wikipage to an external page	https://hosting.med.upenn.edu/prosserlab/ https://leonandfriends.org/en/english/ https://www.ciitizen.com/SYNGAP1

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