Metadata | |
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ID | DOID:0070281 |
Name | primary autosomal recessive microcephaly 19 |
Definition | A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. https://www.ncbi.nlm.nih.gov/pubmed/29036432 |
Xrefs | |
Synonyms |
MCPH19 [EXACT] |
Parent Relationships |