Sotos syndrome 1

info · Syndrome

A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene.

Signs and symptoms

Large hands
Increased body weight
Hearing impairment
Stuttering
Gastroesophageal reflux
Systolic heart murmur
Thin corpus callosum
Posteriorly rotated ears
Tall stature
Downslanted palpebral fissures

Also known as: SOTOS1