Details of Disease | DrugMAP

General Information of Disease (ID: DIS95ZI9)

Disease Name	Microcephaly 23, primary, autosomal recessive
Synonyms	microcephaly 23, PRIMARY, autosomal recessive; MCPH23
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DIS95ZI9: Microcephaly 23, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0054806 UMLS CUI C4693843 OMIM ID 617985 MedGen ID 1631589

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
NCAPH	OTXOS97C	Limited	Unknown	[1]
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References

1	A de novo 7.9 Mb deletion in 22q13.2qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings. Eur J Med Genet. 2010 Sep-Oct;53(5):329-32. doi: 10.1016/j.ejmg.2010.06.004. Epub 2010 Jun 9.