WebSmith–Kingsmore syndrome (SKS; OMIM 616638) was de - scribed as a rare autosomal dominant syndromic overgrowth and intellectual disability syndrome in 2013 by Smith et …
A new case of Smith‐Kingsmore syndrome with somatic MTOR …
WebSmith-Kingsmore Syndrome Foundation (SKSF) provides the information on this website for the benefit of our patient and clinician community. SKSF is not a medical provider or … Web23 (2024) [1] Jordan's Syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the … coding borderline
What Is SKS? (MTOR gene) - Smith-Kingsmore Syndrome
WebICD10: 32 Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of the nervous system Other congenital malformations of brain Other specified congenital malformations of brain Orphanet: 58 Rare neurological diseases Developmental anomalies during embryogenesis External Ids: OMIM® 57 607341 MeSH … Web21 Nov 2024 · Scientists share learnings and gather data needed to design a future clinical trial. Smith-Kingsmore syndrome (SKS) is so rare that experts know of only 50 to 60 … WebA non-profit foundation for children and families affected by Smith-Kingsmore Syndrome working to improve their quality of life by supporting cutting-edge research, collaborating with medical... coding bootcamp prework