otopalatodigital syndrome type 1 (DOID:0111783)
Alliance: disease page
Synonyms: OPD1; OPD I syndrome; OPD syndrome 1; oto-palato-digital syndrome type 1; otopalatodigital syndrome type I; Taybi syndrome
Alt IDs: OMIM:311300, MESH:C536065, NCI:C118845, ORDO:90650, UMLS_CUI:C0265251
Definition: An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.