Details of Disease

General Information of Disease (ID: DISUI4KF)

Disease Name Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Disease Hierarchy
DISYKSRF: Genetic disease
DISUI4KF: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Disease Identifiers
MONDO ID
MONDO_0859190
UMLS CUI
C5561984
OMIM ID
619522
MedGen ID
1794194

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
ZMYM2 OT3DFP27 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.