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Primary Autosomal Recessive Microcephaly 12

Disease ID: disease_node_19288

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DbxrefMIM:616080
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH12
Doid Labelprimary autosomal recessive microcephaly 12
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.
Disease Node Iddisease_node_19288
Doid IdDOID_0070284
LabelPrimary Autosomal Recessive Microcephaly 12