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syndromic X-linked mental retardation Hough type
Summary
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0080242
- Mondo Disease Ontology
- OMIM
