General Information of Disease (ID: DISOJZBL)

Disease Name Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Synonyms IDDSADF; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
Disease Hierarchy
DISYKSRF: Genetic disease
DISOJZBL: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0032864
UMLS CUI
C5231456
OMIM ID
618672
MedGen ID
1684848

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
CNOT3 OT4D5Z9L Strong Autosomal dominant [1]
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References

1 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.