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Metadata
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

GARD:3605

ORDO:2514

Parent Relationships

is_a autosomal dominant disease

is_a primary microcephaly

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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