Seckel syndrome 6
MONDO:0013871Mondo
Findings
No curated finding names Seckel syndrome 6 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 CEP63 gene.
Definition from the Mondo Disease Ontology (MONDO:0013871), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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 speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 3 reported patients · Congenital onset
- Short statureHPOHP:0004322
- 3 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.
- CEP63HGNC:25815
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: Seckel syndrome 6
- Also called
- CEP63 Seckel syndromeSCKL6Seckel syndrome caused by mutation in CEP63Seckel syndrome type 6