Details of Disease | DrugMAP

General Information of Disease (ID: DISRNN72)

Disease Name	Intellectual developmental disorder with hypotonia and behavioral abnormalities
Synonyms	IDDHBA; INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
Disease Hierarchy	DISYKSRF: Genetic disease DISRNN72: Intellectual developmental disorder with hypotonia and behavioral abnormalities
Disease Identifiers	MONDO ID MONDO_0032897 UMLS CUI C5231489 OMIM ID 618748 MedGen ID 1684709

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDK8	TTBJR4L	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDK8	OTMC3CWX	Strong	Autosomal dominant	[1]
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References

1	De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.