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