spondylometaphyseal dysplasia, pagnamenta type
MONDO:0030487Mondo
Findings
No curated finding names spondylometaphyseal dysplasia, pagnamenta type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 3 of 3 reported patients
- RhizomeliaHPOHP:0008905
- 3 of 3 reported patients
- Wormian bonesHPOHP:0002645
- 1 of 1 reported patient
- Broad thumbHPOHP:0011304
- 2 of 3 reported patients
- Thoracic kyphosisHPOHP:0002942
- 2 of 3 reported patients
- Pes planusHPOHP:0001763
- 1 of 2 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- Femoral bowingHPOHP:0002980
- 1 of 3 reported patients
- Short 4th metacarpalHPOHP:0010044
- 1 of 3 reported patients
Show the remaining 3
- Short 5th metacarpalHPOHP:0010047
- 1 of 3 reported patients
- Thin bony cortexHPOHP:0002753
- 1 of 3 reported patients
- Triangular faceHPOHP:0000325
- 1 of 3 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.
- PRKG2HGNC:9416
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: spondylometaphyseal dysplasia, pagnamenta type
- Also called
- SMDP