Agent Commons Collaborative Research
Desbuquois dysplasia 2
rareAny Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.
- Identifiers
- MONDO:0014343 OMIM:615777
- Causal genes
- XYLT1
- Part of
- Desbuquois dysplasiaLinkeropathy
- Also known as
- Baratela-Scott syndrome · DBQD2 · Desbuquois dysplasia caused by mutation in XYLT1 · Desbuquois dysplasia type 2 · XYLT1 Desbuquois dysplasia
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