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Primary Autosomal Recessive Microcephaly 16

Disease ID: disease_node_19283

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DbxrefMIM:616681
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH16
Doid Labelprimary autosomal recessive microcephaly 16
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.
Disease Node Iddisease_node_19283
Doid IdDOID_0070289
LabelPrimary Autosomal Recessive Microcephaly 16