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Primary Autosomal Recessive Microcephaly 13

Disease ID: disease_node_19289

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DbxrefMIM:616051
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH13
Doid Labelprimary autosomal recessive microcephaly 13
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.
Disease Node Iddisease_node_19289
Doid IdDOID_0070283
LabelPrimary Autosomal Recessive Microcephaly 13