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Vissers-Bodmer Syndrome

Disease ID: disease_node_20085

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DbxrefMIM:619033
SubclassofDOID_0050736, DOID_225
Data SourceDOID
Doid LabelVissers-Bodmer syndrome
Doid DescriptionA syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20085
Doid IdDOID_0081397
LabelVissers-Bodmer Syndrome