Details of Disease | DrugMAP

General Information of Disease (ID: DISPH3WV)

Disease Name	Neurodevelopmental disorder with absent language and variable seizures
Synonyms	Ito-Raymond Syndrome; NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISPH3WV: Neurodevelopmental disorder with absent language and variable seizures
Disease Identifiers	MONDO ID MONDO_0032876 UMLS CUI C5231469 OMIM ID 618707 MedGen ID 1684803

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WASF1	OT8C9841	Strong	Autosomal dominant	[1]
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References

1	De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.