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Autosomal Recessive Intellectual Developmental Disorder 73

Disease ID: disease_node_16380

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DbxrefMIM:619717
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 73
Doid DescriptionAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.
Disease Node Iddisease_node_16380
Doid IdDOID_0081233
LabelAutosomal Recessive Intellectual Developmental Disorder 73