autosomal dominant primary microcephaly

Term ID

DOID:0061100

Synonyms

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/

References

GARD:3605
ORDO:2514

Ontology

Human Disease ( DOID:0061100 )

Relationships

is a type of: autosomal dominant disease primary microcephaly

autosomal dominant disease primary microcephaly Show first 5 Terms
has subtype: autosomal dominant primary microcephaly 26 autosomal dominant primary microcephaly 27 primary autosomal dominant microcephaly 18

autosomal dominant primary microcephaly 26 autosomal dominant primary microcephaly 27 primary autosomal dominant microcephaly 18 Show first 5 Terms

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Genes Involved

Zebrafish Models