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 )

Relationships
is a type of: otopalatodigital syndrome spectrum disorder X-linked dominant disease