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Primary Autosomal Recessive Microcephaly 1

Disease ID: disease_node_19287

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DbxrefMIM:251200
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH1
Doid Labelprimary autosomal recessive microcephaly 1
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
Disease Node Iddisease_node_19287
Doid IdDOID_0070285
LabelPrimary Autosomal Recessive Microcephaly 1