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DNA ligase IV deficiency

Just diagnosed with DNA ligase IV deficiency?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees DNA ligase IV deficiency, look for clinical trials, and connect with others living with it — all in one place.

Open the full DNA ligase IV deficiency hub →

Overview

DNA ligase IV deficiency is a rare condition. Also known as DNA ligase IV syndrome, SCID with macrocephaly due to DNA ligase IV deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for DNA ligase IV deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:99812 · OMIM 606593 · ICD-10 D81.1 · GARD 0015000

Find care for DNA ligase IV deficiency

Authoritative references for DNA ligase IV deficiency

Common questions

I was just diagnosed with DNA ligase IV deficiency — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees DNA ligase IV deficiency, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for DNA ligase IV deficiency?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat DNA ligase IV deficiency, filtered to your area.

Are there clinical trials for DNA ligase IV deficiency?

Tomeko shows live, recruiting studies for DNA ligase IV deficiency from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com