Details of Disease

General Information of Disease (ID: DIS10JIK)

Disease Name Intellectual developmental disorder with short stature and behavioral abnormalities
Synonyms INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
Disease Hierarchy
DISYKSRF: Genetic disease
DIS10JIK: Intellectual developmental disorder with short stature and behavioral abnormalities
Disease Identifiers
MONDO ID
MONDO_0032870
UMLS CUI
C5231462
OMIM ID
618687
MedGen ID
1684812

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
IQSEC1 OTK1PBFD Strong Autosomal recessive [1]
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References

1 Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.