Conditions / Syndrome
Seckel syndrome 10
info · Syndrome
A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.
Signs and symptoms
- Hepatic steatosis
- Severe short stature
- Hyperplasia of midface
- Insulin resistance
- Hypertriglyceridemia
- Microretrognathia
- Metaphyseal widening
- Retinal detachment
- Abdominal aortic aneurysm
- Skin tags
Also known as: SCKL10