Details of Disease

General Information of Disease (ID: DISREVYT)

Disease Name Cardiofacioneurodevelopmental syndrome
Synonyms CFNDS
Disease Hierarchy
DISYKSRF: Genetic disease
DISREVYT: Cardiofacioneurodevelopmental syndrome
Disease Identifiers
MONDO ID
MONDO_0030873
UMLS CUI
C5436852
OMIM ID
619123
MedGen ID
1721861

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
CCDC32 OTPPUFIF Moderate Autosomal recessive [1]
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References

1 Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Hum Mol Genet. 2020 Jun 3;29(9):1489-1497. doi: 10.1093/hmg/ddaa073.