Conditions / Syndrome
Seckel syndrome 8
info · Syndrome
A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21.
Signs and symptoms
- Microcephaly
- Short stature
- Global developmental delay
- Convex nasal ridge
- Intellectual disability
- Micrognathia
- Kyphoscoliosis
- Spinal cord compression
- Ectopic kidney
Also known as: SCKL8