Desbuquois dysplasia 2

Definition

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.

Also known as Baratela-Scott syndrome, Desbuquois dysplasia 2, Desbuquois dysplasia caused by mutation in XYLT1, Desbuquois dysplasia type 2, XYLT1 Desbuquois dysplasia — per MONDO

Also identified as

• OMIM 615777 per MONDO
• UMLS C4014294 per MONDO