Seckel syndrome 10
MONDO:0014991Mondo
Findings
No curated finding names Seckel syndrome 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014991), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Hepatic steatosisHPOHP:0001397
- 2 of 2 reported patients
- Hyperplasia of midfaceHPOHP:0012371
- 2 of 2 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 2 of 2 reported patients · Childhood onset
- Insulin resistanceHPOHP:0000855
- 2 of 2 reported patients
- MicroretrognathiaHPOHP:0000308
- 2 of 2 reported patients
- Severe short statureHPOHP:0003510
- 2 of 2 reported patients
- Retinal detachmentHPOHP:0000541
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.
- NSMCE2HGNC:26513
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Seckel syndrome 10
- Also called
- NSMCE2 Seckel syndromeSCKL10Seckel syndrome caused by mutation in NSMCE2Seckel syndrome type 10