FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant primary microcephaly ID (Ontology) DOID:0061100 (Human Disease)
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.
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autosomal genetic disease
 |__autosomal dominant disease__
microcephaly                    |
 |__primary microcephaly________|
                                autosomal dominant primary microcephaly  12 rec.
                                 |__autosomal dominant primary microcephaly 26 2 rec.
                                 |__autosomal dominant primary microcephaly 27 2 rec.
                                 |__primary autosomal dominant microcephaly 18 10 rec.
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Is a autosomal dominant disease
primary microcephaly
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GARD:3605
ORDO:2514