primary autosomal recessive microcephaly 2 with or without cortical malformations

Term ID

DOID:0070293

Synonyms

MCPH2

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/20890279

References

MIM:604317

Ontology

Human Disease ( DOID:0070293 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models