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Non-Syndromic X-Linked Intellectual Disability 1

Disease ID: disease_node_16336

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DbxrefGARD:13221, MIM:309530
SubclassofDOID_0080009, DOID_0050776
Data SourceDOID
SynonymsMRX1, MRX18, MRX78, X-linked mental retardation 1, X-linked mental retardation 1/78, X-linked mental retardation 18, X-linked mental retardation 78
Doid Labelnon-syndromic X-linked intellectual disability 1
Doid DescriptionA non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.
Has Material Basis InGENO_0000146
Disease Node Iddisease_node_16336
Doid IdDOID_0112038
LabelNon-Syndromic X-Linked Intellectual Disability 1