Details of Disease | DrugMAP

General Information of Disease (ID: DIS8B5US)

Disease Name	Microcephaly 27, primary, autosomal dominant
Synonyms	MCPH27; microcephaly 27, primary, autosomal dominant
Disease Hierarchy	DIS7WS7S: Autosomal dominant primary microcephaly DIS8B5US: Microcephaly 27, primary, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0030929 UMLS CUI C5543051 OMIM ID 619180 MedGen ID 1783457

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
LMNB2	OTXRDUOS	Strong	Autosomal dominant	[1]
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References

1	Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. Genet Med. 2021 Feb;23(2):408-414. doi: 10.1038/s41436-020-00980-3. Epub 2020 Oct 9.