Details of Disease

General Information of Disease (ID: DISI09ND)

Disease Name Intellectual developmental disorder with autism and macrocephaly
Synonyms susceptibility to autism 18; AUTS18; autism, susceptibility to, type 18; autism, susceptibility to, 18; CHD8 overgrowth syndrome
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISRAMZ3: Autism, susceptiblity to
DISI09ND: Intellectual developmental disorder with autism and macrocephaly
Disease Identifiers
MONDO ID
MONDO_0014017
UMLS CUI
C3554373
OMIM ID
615032
MedGen ID
767287

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
CHD8 OTS7A6AF Strong Autosomal dominant [1]
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References

1 De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.