primary autosomal recessive microcephaly 6

Term ID

DOID:0070290

Synonyms

• MCPH6

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/15793586

References

• OMIM:608393

Ontology

Human Disease   ( DOID:0070290 )