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Primary Autosomal Recessive Microcephaly 8

Disease ID: disease_node_19290

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DbxrefMIM:614673
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH8
Doid Labelprimary autosomal recessive microcephaly 8
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.
Disease Node Iddisease_node_19290
Doid IdDOID_0070282
LabelPrimary Autosomal Recessive Microcephaly 8