primary autosomal recessive microcephaly 11

Term ID

DOID:0070287

Synonyms

• MCPH11

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. https://www.ncbi.nlm.nih.gov/pubmed/23418308

References

• OMIM:615414

Ontology

Human Disease   ( DOID:0070287 )