Disease: Cleft palate with cleft lip ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.040 GeneticVariation disease BEFREE Among four patients with KS carrying a CHD7 mutation, one had perceptive deafness and two had a cleft lip/palate. 28915117 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.040 GeneticVariation disease BEFREE Considering the large prevalence and clinical spectrum of CHD7 mutations, it will be particularly relevant to genetic counseling to search for mutations in this gene in KS patients seeking fertility treatment, especially if KS is associated with deafness and cleft lip/palate. 25077900 2014
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.040 Biomarker disease BEFREE CHD7 gene and non-syndromic cleft lip and palate. 16763960 2006
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.040 GeneticVariation disease BEFREE The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). 1984262 1991