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Primary Autosomal Recessive Microcephaly 6

Disease ID: disease_node_19282

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DbxrefMIM:608393
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH6
Doid Labelprimary autosomal recessive microcephaly 6
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.
Disease Node Iddisease_node_19282
Doid IdDOID_0070290
LabelPrimary Autosomal Recessive Microcephaly 6