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Non-Syndromic X-Linked Intellectual Disability 2

Disease ID: disease_node_16357

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DbxrefMIM:300428
SubclassofDOID_0080009, DOID_0050776
Data SourceDOID
SynonymsMRX2, X-linked mental retardation 2
Doid Labelnon-syndromic X-linked intellectual disability 2
Doid DescriptionA non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.
Has Material Basis InGENO_0000146
Disease Node Iddisease_node_16357
Doid IdDOID_0112016
LabelNon-Syndromic X-Linked Intellectual Disability 2