DO_rare_slim has material basis in autosomal dominant disease ablepharon macrostomia syndrome DOID:0060550 SNOMEDCT_US_2025_09_01:718575002 GARD:3 UMLS_CUI:C1860224 A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. disease_ontology MIM:200110 MESH:C535557 ORDO:920 syndrome autosomal dominant inheritance