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Primary Autosomal Recessive Microcephaly 14

Disease ID: disease_node_19293

Connections displayed (default: 10).
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DbxrefMIM:616402
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH14
Doid Labelprimary autosomal recessive microcephaly 14
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
Disease Node Iddisease_node_19293
Doid IdDOID_0070279
LabelPrimary Autosomal Recessive Microcephaly 14