About: SYNGAP1-related intellectual disability

Property	Value
dbo:abstract	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)
dbo:diseasesDB	36516
dbo:geneReviewsId	NBK8831
dbo:geneReviewsName	SYNGAP1 (en)
dbo:icd10	F78.A1
dbo:omim	612621 (xsd:integer)
dbo:orpha	544254
dbo:wikiPageExternalLink	https://hosting.med.upenn.edu/prosserlab/ https://leonandfriends.org/en/english/ https://www.ciitizen.com/SYNGAP1 https://www.qstatebio.com/pipelines https://www.sfari.org/funded-project/development-of-antisense-oligonucleotides-for-syngap1-haploinsufficiency-associated-with-autism-spectrum-disorder-and-intellectual-disability/ https://www.simonssearchlight.org/research/what-we-study/syngap1/ https://www.stoketherapeutics.com/ https://www.syngapresearchfund.org/grants-coll/19-3-dr-huganir-at-hopkins https://uspto.report/patent/app/20210180062 https://health.ucdavis.edu/health-news/newsroom/local-foundation-awards-125-million-to-mind-institute-to-study-rare-genetic-condition/2021/06 https://www.qstatebio.com/ https://www.syngapresearchfund.org/post/syngapcensus-1q21-57-new-patients https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed http://www.bridgesyngap.org http://www.syngapresearchfund.org https://syngap1registry.iamrare.org https://www.SyngapResearchFund.org https://www.overcomesyngap1.org https://www.syngap.de https://www.syngap1.es https://www.syngapglobal.net https://medium.com/@syngapfund/we-know-of-at-least-364-syngap-patients-heres-where-they-are-d9f513d28ebd https://patents.google.com/patent/WO2017106377A1/en https://www.med.upenn.edu/hellerlab/
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dbo:wikiPageRevisionID	1093295789 (xsd:integer)
dbo:wikiPageWikiLink	dbr:Electroencephalography dbr:Encephalopathy dbr:Epilepsy dbr:MIND_Institute dbr:Mutation dbr:MAPK/ERK_pathway dbr:Ankle-foot_orthoses dbr:Mosaicism dbr:Antisense_therapy dbr:Applied_behavior_analysis dbr:Richard_L._Huganir dbr:University_of_California,_Davis dbr:Infant dbr:Penetrance dbr:Protein-truncating_variants dbr:Gene_expression dbr:Generalized_epilepsy dbr:Generalized_tonic–clonic_seizure dbr:Genetic_disorder dbr:Genetic_testing dbr:Epileptic_seizure dbr:Cortex_(anatomy) dbr:Angelman_syndrome dbr:Magnetic_resonance_imaging dbr:Simons_Foundation_Autism_Research_Initiative dbr:Ketogenic_diet dbr:Pervasive_developmental_disorder dbr:Point_mutation dbr:Microdeletion_syndrome dbr:Wheelchair dbr:Autism dbr:Autosomal_dominant dbr:Cerebral_palsy dbr:Tuberous_sclerosis dbr:Gait dbr:Johns_Hopkins_School_of_Medicine dbr:Absence_seizure dbc:Learning_disabilities dbr:Central_nervous_system dbr:Chromosome_6 dbr:Global_developmental_delay dbr:Haploinsufficiency dbr:Hippocampus dbr:Doose_syndrome dbr:Lennox–Gastaut_syndrome dbr:Protein dbr:Rett_syndrome dbc:Rare_syndromes dbc:Syndromes_affecting_the_nervous_system dbr:AAC_device dbr:Gross_motor_skill dbr:Heterozygous dbr:Atonic_seizure dbr:Hypotonia dbr:Jeavons_syndrome dbc:Neurological_disorders dbc:Disorders_causing_seizures dbr:Cognitive_development dbr:Whole_exome_sequencing dbr:Missense_mutation dbr:Reflex_seizure dbr:Physical_therapy dbr:Antisense_oligonucleotide_therapy dbr:Intellectual_disability dbr:Occupational_therapy dbr:Sensory_processing_disorder dbr:Speech_and_Language_Therapy dbr:Nonverbal_communication dbr:Photosensitivity_in_humans dbr:Simons_Foundation dbr:SYNGAP1 dbr:West_Syndrome dbr:Occipital_region dbr:Chromosomal_microarray_analysis dbr:Behavioural_problems dbr:Gastrostomy_tube dbr:Sleep_problems dbr:Autism-spectrum_disorder dbr:Myoclonic_jerks dbr:Single-gene_disorder dbr:Infantile_spasms dbr:Balanced_translocation dbr:Loss_of_function dbr:Anti-epileptic_drugs dbr:Strollers
dbp:diseasesdb	36516 (xsd:integer)
dbp:genereviewsname	SYNGAP1 (en)
dbp:genereviewsnbk	NBK8831 (en)
dbp:icd	F78.A1 (en)
dbp:omim	612621 (xsd:integer)
dbp:orphanet	544254 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Primary_sources dbt:Reflist dbt:Short_description dbt:More_medical_citations_needed dbt:Medical_condition_classification_and_resources
dcterms:subject	dbc:Learning_disabilities dbc:Rare_syndromes dbc:Syndromes_affecting_the_nervous_system dbc:Neurological_disorders dbc:Disorders_causing_seizures
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease
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)
rdfs:label	SYNGAP1-related intellectual disability (en)
owl:sameAs	wikidata:SYNGAP1-related intellectual disability https://global.dbpedia.org/id/E2nsC
prov:wasDerivedFrom	wikipedia-en:SYNGAP1-related_intellectual_disability?oldid=1093295789&ns=0
foaf:isPrimaryTopicOf	wikipedia-en:SYNGAP1-related_intellectual_disability
is dbo:wikiPageWikiLink of	dbr:RASopathy dbr:Autism_spectrum
is rdfs:seeAlso of	dbr:SYNGAP1
is foaf:primaryTopic of	wikipedia-en:SYNGAP1-related_intellectual_disability