Details of Disease | DrugMAP

General Information of Disease (ID: DIS43L0T)

Disease Name	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Synonyms	MCPH2; microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DIS43L0T: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Disease Identifiers	MONDO ID MONDO_0011435 UMLS CUI C1858535 OMIM ID 604317 MedGen ID 346929

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
WDR62	OTJ85ZXF	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.