primary autosomal recessive microcephaly 12

Term ID

DOID:0070284

Synonyms

• MCPH12

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/23918663

References

• OMIM:616080

Ontology

Human Disease   ( DOID:0070284 )