Details of Disease

General Information of Disease (ID: DISK9PRN)

Disease Name DeSanto-Shinawi syndrome due to WAC point mutation
Synonyms
chromosome 10P12-p11 deletion syndrome; developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities; developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities; Desanto-Shinawi syndrome; DESSH; DESANTO-SHINAWI syndrome; facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Disease Hierarchy
DISY6ZH0: DeSanto-Shinawi syndrome
DISYKSRF: Genetic disease
DISK9PRN: DeSanto-Shinawi syndrome due to WAC point mutation
Disease Identifiers
MONDO ID
MONDO_0014741
UMLS CUI
C5681129
MedGen ID
1841517
Orphanet ID
466950

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 Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. Am J Med Genet A. 2022 May;188(5):1396-1406. doi: 10.1002/ajmg.a.62648. Epub 2022 Jan 12.