Metadata | |
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ID | DOID:0070279 |
Name | primary autosomal recessive microcephaly 14 |
Definition | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/24951542 |
Xrefs | |
Synonyms |
MCPH14 [EXACT] |
Parent Relationships |