Details of Disease

General Information of Disease (ID: DISI3C78)

Disease Name Developmental delay with or without dysmorphic facies and autism
Synonyms DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA
Disease Hierarchy
DISYKSRF: Genetic disease
DISI3C78: Developmental delay with or without dysmorphic facies and autism
Disease Identifiers
MONDO ID
MONDO_0032760
UMLS CUI
C5193106
OMIM ID
618454
MedGen ID
1679263

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
TRRAP OT68OI2Y Definitive Autosomal dominant [1]
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References

1 De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet. 2012 Dec;44(12):1365-9. doi: 10.1038/ng.2446. Epub 2012 Oct 3.