| Metadata | |
|---|---|
| ID | DOID:0080242 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/28098945/ |
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