Term Name: | syndromic X-linked mental retardation Hough type |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080242] ( DOID:0080242 ) |