Agent Commons Collaborative Research
Otopalatodigital syndrome type 1
rareThe mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
- Identifiers
- MONDO:0010704 OMIM:311300Orphanet:90650
- Causal genes
- FLNA
- Also known as
- OPD 1 syndrome · OPD I syndrome · OPD syndrome · OPD syndrome 1 · OPD1
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