Uniting Families to Make a Difference

CLTC Related Intellectual Disability (CLTC-ID for short) is a rare neurodevelopmental condition caused by changes in the CLTC gene — the gene that encodes clathrin heavy chain, a protein cells use to move material in and out across their membranes. The condition was first described in the medical literature in 2016^[1] and belongs to a growing group of disorders caused by disruption of clathrin-mediated intracellular transport.^[4]

CLTC isn't just important in humans — it's one of the most evolutionarily essential genes known. Clathrin-mediated transport is shared by virtually every form of life on Earth, from yeast and plants to all animals, and the CLTC gene is required for survival across these species. That deep conservation explains both why mutations in CLTC have such broad effects on brain development and why nature so rarely tolerates changes to it.

Most cases are de novo — meaning the mutation arose spontaneously in the child and was not inherited from either parent.^[1] A single altered copy of the gene is enough to cause the disorder.^[3]

Globally, fewer than 200 patients are known so far from the medical literature and online support groups but we believe this is just a small percentage of the total affected. This site exists to bring families, clinicians, and researchers together — to learn from each other, advance research, and give CLTC-ID the visibility it deserves. Visit the Family Resources section for a full plain-language explanation.