Otopalatodigital syndrome type 1
ORPHA:90650· ICD-10 Q87.0
Definition
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.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal