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Non-Syndromic X-Linked Intellectual Disability 98

Disease ID: disease_node_16331

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DbxrefMIM:300912
SubclassofDOID_0080009, DOID_0050776
Data SourceDOID
SynonymsMRX98, X-linked mental retardation 98
Doid Labelnon-syndromic X-linked intellectual disability 98
Doid DescriptionA non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3.
Has Material Basis InGENO_0000146
Disease Node Iddisease_node_16331
Doid IdDOID_0112044
LabelNon-Syndromic X-Linked Intellectual Disability 98