WebJan 3, 2024 · Distinctive Facial Features: These include wide nose, thicker eyelashes and brows, thick lips, wider mouth, and flat nasal bridge. The eyes may also appear … WebClinVar archives and aggregates information about relationships among variation and human health.

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WebNM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) AND Coffin-Siris syndrome Clinical significance: Uncertain significance (Last evaluated: Jun 14, 2016) Review status: 1 star out of maximum of 4 stars WebCoffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse … moments of leadership podcast

Entry - #614607 - COFFIN-SIRIS SYNDROME 2; CSS2 - OMIM

WebThe phenotype of the patients with pathogenic/likely pathogenic variants was consistent with intellectual developmental disorder with speech delay and dysmorphic facies, also called Coffin-Siris syndrome-10; however, the patients lacked the most specific features of Coffin-Siris syndrome (e.g., fifth-finger nail hypoplasia, corpus callosum ... WebCoffin-Siris syndrome-4 (CSS4)5 SMARCA4 (614609) Yes Coffin-Siris syndrome-4 (CSS4)6 SMARCA4 c.2656 (614609) No Coffin-Siris syndrome-9 (CSS9) SOX11 (615866) No Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) CDK13, CCNK (617360) Yes . Disorder Causative … WebNM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) AND Coffin-Siris syndrome Clinical significance: Benign (Last evaluated: Jan 12, 2024) Review status: 1 star out of maximum of 4 stars moments of mass