primary autosomal recessive microcephaly 19

Term ID

DOID:0070281

Synonyms

• MCPH19

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. https://www.ncbi.nlm.nih.gov/pubmed/29036432

References

• OMIM:617800

Ontology

Human Disease   ( DOID:0070281 )