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primary autosomal recessive microcephaly 2 with or without cortical malformations
Summary
- Synonym
-
- MCPH2
- Definition
- A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.
- Super Class
- primary autosomal recessive microcephaly
External Links
- Disease Ontology
- DOID:0070293
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
