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Autosomal Recessive Intellectual Developmental Disorder 82

Disease ID: disease_node_16446

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DbxrefMIM:620779
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 82
Doid DescriptionAn autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.
Disease Node Iddisease_node_16446
Doid IdDOID_0060947
LabelAutosomal Recessive Intellectual Developmental Disorder 82