Details of Disease

General Information of Disease (ID: DISWVY1D)

Disease Name Koolen-de Vries syndrome due to a point mutation
Disease Hierarchy
DISFVMRA: Koolen-de Vries syndrome
DISWVY1D: Koolen-de Vries syndrome due to a point mutation
Disease Identifiers
MONDO ID
MONDO_0018217
UMLS CUI
C5680974
MedGen ID
1843302
Orphanet ID
363965

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
KANSL1 OTYNSNNZ Supportive Autosomal dominant [1]
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References

1 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262.