Details of Disease | DrugMAP

General Information of Disease (ID: DISAVGIQ)

Disease Name	Microcephaly 20, primary, autosomal recessive
Synonyms	microcephaly 20, PRIMARY, autosomal recessive; MCPH20
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISAVGIQ: Microcephaly 20, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0054761 UMLS CUI C4693572 OMIM ID 617914 MedGen ID 1641618

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
KIF14	OTXHT4JM	Strong	Autosomal recessive	[1]
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References

1	Kif14 mutation causes severe brain malformation and hypomyelination. PLoS One. 2013;8(1):e53490. doi: 10.1371/journal.pone.0053490. Epub 2013 Jan 4.