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Syndromic X-Linked Mental Retardation Hough Type

Disease ID: disease_node_13602

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DbxrefMIM:301008
SubclassofDOID_0060309
Data SourceDOID
Doid Labelsyndromic X-linked mental retardation Hough type
Doid DescriptionA syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.
Disease Node Iddisease_node_13602
Doid IdDOID_0080242
LabelSyndromic X-Linked Mental Retardation Hough Type