KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, cafe-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. He has gastroesophageal reflux, constipation with delayed rectosigmoid colonic transit tim...
peer reviewedPURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2...
Contains fulltext : 50817.pdf (publisher's version ) (Closed access)The extensive ...
BACKGROUND: Since the first description of a BRWD3-related phenotype in 2007, 21 additional families...
KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than f...
KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than f...
International audienceExistence of a discrete new X-linked intellectual disability (XLID) syndrome d...
BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intelle...
Item does not contain fulltextPURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syn...
peer reviewedPURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2...
Contains fulltext : 50817.pdf (publisher's version ) (Closed access)The extensive ...
BACKGROUND: Since the first description of a BRWD3-related phenotype in 2007, 21 additional families...
KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than f...
KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than f...
International audienceExistence of a discrete new X-linked intellectual disability (XLID) syndrome d...
BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intelle...
Item does not contain fulltextPURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syn...
peer reviewedPURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2...
Contains fulltext : 50817.pdf (publisher's version ) (Closed access)The extensive ...
BACKGROUND: Since the first description of a BRWD3-related phenotype in 2007, 21 additional families...