Metadata | |
---|---|
ID | DOID:0070296 |
Name | primary autosomal recessive microcephaly |
Definition | A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. https://www.ncbi.nlm.nih.gov/pubmed/15806441, https://www.ncbi.nlm.nih.gov/pubmed/28912110 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
MCPH [EXACT] |
Parent Relationships |
is_a primary microcephaly |