primary autosomal recessive microcephaly 16

Term ID

DOID:0070289

Synonyms

• MCPH16

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/25259927

References

• OMIM:616681

Ontology

Human Disease   ( DOID:0070289 )