Smith-McCort dysplasia 2
Findings
No curated finding names Smith-McCort dysplasia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.
Definition from the Mondo Disease Ontology (MONDO:0014087), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- Broad femoral neckHPOHP:0006429
- 1 of 1 reported patient
- Broad metatarsalHPOHP:0001783
- 1 of 1 reported patient
- Broad phalanxHPOHP:0006009
- 1 of 1 reported patient
- Enlarged interphalangeal jointsHPOHP:0006247
- 4 of 4 reported patients
- Flat acetabular roofHPOHP:0003180
- 1 of 1 reported patient
- Flattened epiphysisHPOHP:0003071
- 1 of 1 reported patient
- Flattened femoral headHPOHP:0008812
Show the remaining 12
- Pectus carinatumHPOHP:0000768
- 4 of 4 reported patients
- PlatyspondylyHPOHP:0000926
- 1 of 1 reported patient
- Short metacarpalHPOHP:0010049
- 1 of 1 reported patient
- Short metatarsalHPOHP:0010743
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 4 of 4 reported patients
- Short phalanx of fingerHPOHP:0009803
- 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.
- RAB33BHGNC:16075
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Smith-McCort dysplasia 2
- Also called
- RAB33B Smith-McCort dysplasiaSmith-McCort dysplasia caused by mutation in RAB33BSmith-McCort dysplasia type 2