Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that...

and an overly broad mouth (macrostomia). Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with...

ablepharon-macrostomia syndrome (AMS; 200110) or an intermediate phenotype between AMS and Fraser syndrome, and the other had classic Fraser syndrome...

child syndrome ABCD syndrome Abdallat–Davis–Farrage syndrome Abderhalden–Kaufmann–Lignac syndrome Abdominal compartment syndrome Ablepharon macrostomia syndrome...

bone structure of the side of the face with the abnormality. Ablepharon macrostomia syndrome : (AMS) A rare genetic disorder characterized by various physical...

see Altered level of consciousness Antimicrobial stewardship Ablepharon macrostomia syndrome, an autosomal dominant genetic disorder Address Management...

neoplasms Aberrant subclavian artery Ablepharon macrostomia syndrome Abnormal systemic venous return Abruzzo–Erickson syndrome Absence of gluteal muscle Absence...

and gain-of-function effects are associated with ablepharon macrostomia syndrome and Barber–Say syndrome. ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608...