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

• OMIM:604317

Ontology

Human Disease   ( DOID:0070293 )