Seckel syndrome 8
MONDO:0014350Mondo
Findings
No curated finding names Seckel syndrome 8 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 DNA2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014350), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Convex nasal ridgeHPOHP:0000444
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Ectopic kidneyHPOHP:0000086
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.
- DNA2HGNC:2939
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · G2P · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: Seckel syndrome 8
- Also called
- DNA2 Seckel syndromeSCKL8Seckel syndrome caused by mutation in DNA2Seckel syndrome type 8