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autosomal dominant Robinow syndrome 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.
Uniprot Description A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects.
Mondo Term and Equivalent IDs
MONDO:0014819:  autosomal dominant Robinow syndrome 3
UMLS:C4225164: