IEMbase 0639: XYLT2-related spondyloocular syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 639 |
| Nosology | 18.2.02.03 |
| Gene | XYLT2 |
| External IDs | OMIM:605822; ORPHA:85194 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents XYLT2-related spondyloocular syndrome / XYLT2-CDG as an autosomal recessive disorder with unknown treatability and no treatment rows.
The cached record has no biochemical rows. Clinical and characteristic rows include low bone mineral density, vertebral compression fractures, bone fractures, cataract, hearing loss, retinal detachment, optional atrial septal defect, optional intellectual disability, optional kyphosis, and optional short stature.
DisMech phenotype coverage
No exact XYLT2-related spondyloocular syndrome entry was identified. There are local final-common-pathway entries and modules relevant to individual features such as cataract, hearing loss, bone fragility, or skeletal disease, but no single disease entry covers the XYLT2 proteoglycan-biosynthesis disorder and its combined skeletal-ocular phenotype.
Concordance and completeness
Judgement: true local gap.
This is a coherent disease entity rather than an isolated osteoporosis/cataract phenotype. Future curation should preserve the combined bone, spine, ocular, hearing, cardiac, and neurodevelopmental signal.
Curation actions
- Curate XYLT2-related spondyloocular syndrome as a separate disorder if selected.
- Preserve low bone mineral density, vertebral compression fractures, bone fractures, cataract, retinal detachment, hearing loss, atrial septal defect, kyphosis, short stature, and intellectual-disability prompts.