Details of Disease | DrugMAP

General Information of Disease (ID: DISL5LNC)

Disease Name	Intellectual developmental disorder with impaired language and dysmorphic facies
Synonyms	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
Disease Hierarchy	DISYKSRF: Genetic disease DISL5LNC: Intellectual developmental disorder with impaired language and dysmorphic facies
Disease Identifiers	MONDO ID MONDO_0032851 UMLS CUI C5231444 OMIM ID 618653 MedGen ID 1684804

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
DDX6	OTKWXVDY	Strong	Autosomal dominant	[1]
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References

1	Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15.