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Autosomal Recessive Intellectual Developmental Disorder 77

Disease ID: disease_node_16377

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DbxrefMIM:619988
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 77
Doid DescriptionAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
Disease Node Iddisease_node_16377
Doid IdDOID_0081236
LabelAutosomal Recessive Intellectual Developmental Disorder 77