Sotos syndrome

Findings

No curated finding names Sotos syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital onset · Infantile onset · Neonatal onset · Fetal onset · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• partial deletion of the long arm of chromosome 5
• skeletal dysplasia
• syndromic disease

Resolves to: Sotos syndrome

Also called

cerebral gigantismcerebral gigantism syndromechromosome 5q35 deletion syndromeNSD1 Sotos syndromeSotos syndrome 1Sotos syndrome caused by mutation in NSD1Sotos syndrome type 1Sotos' syndrome