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Primary Autosomal Recessive Microcephaly 17

Disease ID: disease_node_19284

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DbxrefMIM:617090
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH17
Doid Labelprimary autosomal recessive microcephaly 17
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.
Disease Node Iddisease_node_19284
Doid IdDOID_0070288
LabelPrimary Autosomal Recessive Microcephaly 17