📂 Diseases
autosomal dominant Robinow syndrome 2 — Definition
Otozomal dominant Robinow sendromu tip 2 / autosomal dominant Robinow syndrome 2
Otozomal dominant Robinow syndrome type 2 is a genetic disease that is rare with the abnormalities of the skeleton system, short size and characteristic facial appearance. The disease occurs due to mutations in the DVL1 gene and indicates autosomal dominant inheritance. Clinical findings include costovertebral segmentation defects, genital hypoplasia with hand and foot anomalies.
Frequently Asked Questions
❓ What is Otozomal dominant Robinow sendromu tip 2?
Otozomal dominant Robinow sendromu tip 2; otozomal dominant Robinow syndrome type 2 is a genetic disease that is rare with the abnormalities of the skeleton system, short size and characteristic facial appearance. The disease occurs due to mutations in the DVL1 gene and indicates autosomal dominant inheritance. Clinical findings include costovertebral segmentation defects, genital hypoplasia with hand and foot anomalies.
❓ What is autosomal dominant Robinow syndrome 2 in Turkish?
The Turkish equivalent of "autosomal dominant Robinow syndrome 2" is Otozomal dominant Robinow sendromu tip 2.
❓ Which medical field is Otozomal dominant Robinow sendromu tip 2 related to?
This term belongs to the Diseases category.