Details of Disease | DrugMAP

General Information of Disease (ID: DISEN8S9)

Disease Name	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
Synonyms	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS
Disease Hierarchy	DISYKSRF: Genetic disease DISEN8S9: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
Disease Identifiers	MONDO ID MONDO_0032883 UMLS CUI C5231476 OMIM ID 618725 MedGen ID 1684850

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
PHF21A	OTU3FFG4	Strong	Autosomal dominant	[1]
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References

1	Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.