Conditions / Syndrome
Sotos syndrome 3
info ยท Syndrome
A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.
Signs and symptoms
- Poor speech
- Delayed speech and language development
- Narrow palate
- Wide nasal bridge
- Long face
- Brachydactyly
- Seizure
- Global developmental delay
- Relative macrocephaly
- EEG with polyspike wave complexes
Also known as: SOTOS3