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Autosomal Recessive Intellectual Developmental Disorder 41

Disease ID: disease_node_16407

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DbxrefMIM:615637
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 41
Doid DescriptionAn autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.
Disease Node Iddisease_node_16407
Doid IdDOID_0081206
LabelAutosomal Recessive Intellectual Developmental Disorder 41