Metadata | |
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ID | DOID:0061100 |
Name | autosomal dominant primary 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 dominant mutation. https://pubmed.ncbi.nlm.nih.gov/32910914/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant disease is_a primary microcephaly |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |