Otopalatodigitalt syndrom type 1
Engelsk navn: Otopalatodigital syndrome type 1
Engelske synonym: OPD I syndrome,OPD syndrome 1,Taybi syndrome
Definisjon
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Fra Orphanet
ORPHA: 90650
Klassifiseringsnivå: Disorder
ICD-10: Q87.0