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primary autosomal recessive microcephaly 19
Summary
- Synonym
-
- MCPH19
- Definition
- A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
- Super Class
- primary autosomal recessive microcephaly
External Links
- Disease Ontology
- DOID:0070281
- Mondo Disease Ontology
- OMIM
