Details of Disease | DrugMAP

General Information of Disease (ID: DISGL2KE)

Disease Name	Microcephaly 22, primary, autosomal recessive
Synonyms	microcephaly 22, PRIMARY, autosomal recessive; MCPH22
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISGL2KE: Microcephaly 22, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0054805 UMLS CUI C4693834 OMIM ID 617984 MedGen ID 1635688

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
NCAPD3	OTOZY2UL	Limited	Unknown	[1]
------------------------------------------------------------------------------------

References

1	Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016 Oct 1;30(19):2158-2172. doi: 10.1101/gad.286351.116. Epub 2016 Oct 13.