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autosomal dominant Robinow syndrome 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.
Uniprot Description A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases.
Mondo Term and Equivalent IDs
MONDO:0024455:  autosomal dominant Robinow syndrome 1