Human genes for otopalatodigital syndrome type 1
Otopalatodigital syndrome type 1 [DOID:0111783]
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 FLNA on chromosome Xq28.
Synonyms: otopalatodigital syndrome type 1, DOID:0111783, OPD1, OPD I syndrome, OPD syndrome 1 ...