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Syndromic X-Linked Intellectual Disability Pilorge Type

Disease ID: disease_node_13605

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DbxrefMIM:301076
SubclassofDOID_0060309
Data SourceDOID
SynonymsMRXSP
Doid Labelsyndromic X-linked intellectual disability Pilorge type
Doid DescriptionA syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.
Disease Node Iddisease_node_13605
Doid IdDOID_0070422
LabelSyndromic X-Linked Intellectual Disability Pilorge Type