Term Name: | primary autosomal recessive microcephaly 14 |
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Synonyms: | MCPH14 |
Definition: | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. |
Ontology: | Human Disease [DOID:0070279] ( DOID:0070279 ) |