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Primary Autosomal Recessive Microcephaly 11

Disease ID: disease_node_19285

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DbxrefMIM:615414
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH11
Doid Labelprimary autosomal recessive microcephaly 11
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.
Disease Node Iddisease_node_19285
Doid IdDOID_0070287
LabelPrimary Autosomal Recessive Microcephaly 11