primary autosomal recessive microcephaly 13

Term ID

DOID:0070283

Synonyms

• MCPH13

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/24748105

References

• OMIM:616051

Ontology

Human Disease   ( DOID:0070283 )