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 )

Relationships
is a type of: primary autosomal recessive microcephaly