| Term Name: | primary autosomal recessive microcephaly 19 |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070281] ( DOID:0070281 ) |