Details of Disease | DrugMAP

General Information of Disease (ID: DISY6ZH0)

Disease Name	DeSanto-Shinawi syndrome
Synonyms	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Disease Hierarchy	DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISY6ZH0: DeSanto-Shinawi syndrome
Disease Identifiers	MONDO ID MONDO_0018760 UMLS CUI C4225239 OMIM ID 616708 MedGen ID 908218 Orphanet ID 466943 SNOMED CT ID 1187247007

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
WAC	OTIEQNAL	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.