primary autosomal recessive microcephaly 5

Term ID

DOID:0070280

Synonyms

• MCPH5

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. https://www.ncbi.nlm.nih.gov/pubmed/12355089

References

• OMIM:608716

Ontology

Human Disease   ( DOID:0070280 )