Seckel syndrome 4
MONDO:0013358Mondo
Findings
No curated finding names Seckel syndrome 4 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 CENPJ gene.
Definition from the Mondo Disease Ontology (MONDO:0013358), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- High foreheadHPOHP:0000348
- 2 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 2 reported patients
- Severe short statureHPOHP:0003510
Where it sits
Other names
4 names
Resolves to: Seckel syndrome 4
- Also called
- CENPJ Seckel syndromeSCKL4Seckel syndrome caused by mutation in CENPJSeckel syndrome type 4