Version: 8.1.0
Date: Fri Apr 18 2025
syndromic X-linked mental retardation Hough type
DOID:0080242
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

syndromic X-linked mental retardation Hough type

Definition
A 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.
Synonyms
None
Cross References
Parent Terms
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Sources of Associations

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      Associated Models

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