Seckel syndrome 5
MONDO:0013443Mondo
Findings
No curated finding names Seckel syndrome 5 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 CEP152 gene.
Definition from the Mondo Disease Ontology (MONDO:0013443), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
30 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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- 7 of 7 reported patients
- Convex nasal ridgeHPOHP:0000444
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- MicrognathiaHPOHP:0000347
- 8 of 8 reported patients
- Short statureHPOHP:0004322
- 8 of 8 reported patients
- Simplified gyral patternHPOHP:0009879
- 5 of 5 reported patients
- Sloping foreheadHPOHP:0000340
Show the remaining 18
- Clitoral hypertrophyHPOHP:0008665
- 2 of 3 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 4 of 6 reported patients
- Pes planusHPOHP:0001763
- 4 of 7 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 5 reported patients
- BlepharophimosisHPOHP:0000581
- 3 of 8 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 2 of 6 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.
- CEP152HGNC:29298
- Definitive · G2P · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Seckel syndrome 5
- Also called
- CEP152 Seckel syndromeSCKL5Seckel syndrome caused by mutation in CEP152Seckel syndrome type 5