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Autosomal Recessive Intellectual Developmental Disorder 66

Disease ID: disease_node_16386

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DbxrefMIM:618221
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 66
Doid DescriptionAn autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13.
Disease Node Iddisease_node_16386
Doid IdDOID_0081227
LabelAutosomal Recessive Intellectual Developmental Disorder 66