congenital insensitivity to pain with severe intellectual disability

Findings

No curated finding names congenital insensitivity to pain with severe intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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

• congenital insensitivity to pain
• congenital nervous system disorder

Resolves to: congenital insensitivity to pain with severe intellectual disability

Also called

congenital absence of pain with severe intellectual disabilitycongenital analgesia with severe intellectual disabilitycongenital insensitivity to pain with preserved temperature sensationcongenital insensitivity to pain with severe non-progressive cognitive delay