Term Name: | otopalatodigital syndrome type 1 |
---|---|
Synonyms: | OPD I syndrome, OPD syndrome 1, OPD1, oto-palato-digital syndrome type 1, otopalatodigital syndrome type I, Taybi syndrome |
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. |
Ontology: | Human Disease [DOID:0111783] ( DOID:0111783 ) |