Smith-McCort dysplasia 1
MONDO:0011814Mondo
Findings
No curated finding names Smith-McCort dysplasia 1 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 DYM gene.
Definition from the Mondo Disease Ontology (MONDO:0011814), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- 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.
- Atlantoaxial instabilityHPOHP:0003467
- 1 of 1 reported patient
- Barrel-shaped chestHPOHP:0001552
- 1 of 1 reported patient
- Beaking of vertebral bodiesHPOHP:0004568
- 1 of 1 reported patient
- Genu varumHPOHP:0002970
- 1 of 1 reported patient
- Iliac crest serrationHPOHP:0008786
- 1 of 1 reported patient
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- Limitation of joint mobilityHPOHP:0001376
Show the remaining 3
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 0 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 0 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.
- DYMHGNC:21317
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Smith-McCort dysplasia 1
- Also called
- DYM Smith-McCort dysplasiaSmith-McCort dysplasia caused by mutation in DYMSmith-McCort dysplasia type 1