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Primary Autosomal Recessive Microcephaly

Disease ID: disease_node_19277

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DbxrefGARD:12117, MIM:PS251200, ORDO:2512
SubclassofDOID_0050737, DOID_0070297
Data SourceDOID
SynonymsMCPH
Doid Labelprimary autosomal recessive microcephaly
Doid DescriptionA 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.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_19277
Doid IdDOID_0070296
LabelPrimary Autosomal Recessive Microcephaly