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Article

Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder.

Journal of human genetics - 1 Aug 2026

Kumar Anil, Kumar Ajay, Dey Chandraniv, Wander Arvinder, Chakraborty Sudip, Munshi Anjana

Abstract excerpt

Neurological disorders with overlapping phenotypes pose significant diagnostic challenges, especially the ones that occur on account of rare genetic variants. We hereby report a case of a 16-year-old male with clinical symptoms of severe intellectual disability, excessive appetite, an elongated face with decreased body weight (<-2 SD) and microcephaly (<-3 SD). Behavioral manifestations like attention deficit,...

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PMID: 41946974
DOI: 10.1038/s10038-026-01475-w

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