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Primary Autosomal Recessive Microcephaly 7

Disease ID: disease_node_19294

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DbxrefMIM:612703
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH7
Doid Labelprimary autosomal recessive microcephaly 7
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.
Disease Node Iddisease_node_19294
Doid IdDOID_0070278
LabelPrimary Autosomal Recessive Microcephaly 7