skeletal dysplasia, mild, with joint laxity and advanced bone age
MONDO:0030029Mondo
Findings
No curated finding names skeletal dysplasia, mild, with joint laxity and advanced bone age yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
47 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.
- 2-3 toe syndactylyHPOHP:0004691
- 2 of 2 reported patients
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 1 reported patient · Childhood onset
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 2 reported patients
- Convex nasal ridgeHPOHP:0000444
- 2 of 2 reported patients
- Coronal cleft vertebraeHPOHP:0003417
- 3 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Finger joint hypermobilityHPOHP:0006094
- 1 of 1 reported patient · Childhood onset
- Flat acetabular roofHPOHP:0003180
- 2 of 2 reported patients
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients · Infantile onset
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
Show the remaining 35
- MicromeliaHPOHP:0002983
- 1 of 1 reported patient
- Monkey wrench femoral neckHPOHP:0033102
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 2 of 2 reported patients · Neonatal onset
- Prominent nasal tipHPOHP:0005274
- 2 of 2 reported patients
- Round faceHPOHP:0000311
- 1 of 1 reported patient
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.
- CSGALNACT1HGNC:24290
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: skeletal dysplasia, mild, with joint laxity and advanced bone age
- Also called
- SDJLABA