Details of Disease | DrugMAP

General Information of Disease (ID: DISQT53F)

Disease Name	Microcephaly 28, primary, autosomal recessive
Synonyms	microcephaly 28, primary, autosomal recessive; MCPH28
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISQT53F: Microcephaly 28, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0030339 UMLS CUI C5562069 OMIM ID 619453 MedGen ID 1794279

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
RRP7A	OTYFNQUC	Limited	Autosomal recessive	[1]
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References

1	RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. Nat Commun. 2020 Nov 16;11(1):5816. doi: 10.1038/s41467-020-19658-0.