Details of Disease

General Information of Disease (ID: DISPOVWF)

Disease Name Intellectual developmental disorder with hypertelorism and distinctive facies
Synonyms chromosome 14q32 deletion syndrome; INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF
Disease Hierarchy
DISYKSRF: Genetic disease
DISPOVWF: Intellectual developmental disorder with hypertelorism and distinctive facies
Disease Identifiers
MONDO ID
MONDO_0029143
UMLS CUI
C4748381
OMIM ID
618147
MedGen ID
1648403

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
CCNK OTZ7JBPK Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.