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Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations

Disease ID: disease_node_19279

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DbxrefMIM:604317
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH2
Doid Labelprimary autosomal recessive microcephaly 2 with or without cortical malformations
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.
Disease Node Iddisease_node_19279
Doid IdDOID_0070293
LabelPrimary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations