primary autosomal recessive microcephaly 4

Term ID

DOID:0070291

Synonyms

• MCPH4

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/22983954

References

• OMIM:604321

Ontology

Human Disease   ( DOID:0070291 )