Desbuquois dysplasia 2
MONDO:0014343Mondo
Findings
No curated finding names Desbuquois dysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014343), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Advanced ossification of carpal bonesHPOHP:0004233
- 7 of 7 reported patients
- Epiphyseal dysplasiaHPOHP:0002656
- 7 of 7 reported patients
- Flat faceHPOHP:0012368
- 7 of 7 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 7 of 7 reported patients
- Metaphyseal wideningHPOHP:0003016
- 7 of 7 reported patients
- Prominent lesser trochanterHPOHP:6000816
- 1 of 1 reported patient
- ProptosisHPOHP:0000520
Show the remaining 27
- Neonatal respiratory distressHPOHP:0002643
- 4 of 7 reported patients · Neonatal onset
- Hip dislocationHPOHP:0002827
- 3 of 7 reported patients
- Blue scleraeHPOHP:0000592
- 2 of 7 reported patients
- Broad thumbHPOHP:0011304
- 2 of 7 reported patients
- Cleft palateHPOHP:0000175
- 2 of 7 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- XYLT1HGNC:15516
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Desbuquois dysplasia 2
- Also called
- Baratela-Scott syndromeDesbuquois dysplasia caused by mutation in XYLT1Desbuquois dysplasia type 2XYLT1 Desbuquois dysplasia