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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

GARD:12117

OMIM:PS251200

ORDO:2512

Synonyms

MCPH [EXACT]

Parent Relationships

is_a primary microcephaly

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