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primary autosomal recessive microcephaly 14
Summary
- Synonym
-
- MCPH14
- Definition
- A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
- Super Class
- primary autosomal recessive microcephaly
External Links
- Disease Ontology
- DOID:0070279
- Mondo Disease Ontology
- OMIM
