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DNA ligase IV deficiency

MONDO:0011686

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

Also known as: DNA ligase IV deficiency, LIG4 syndrome, ligase 4 syndrome

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Immune system disorder (148) Immunodeficiency disease (54) Syndromic disease (25) Severe combined immunodeficiency (23) Human disease (14) Combined immunodeficiency (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Trials to join now! 1 Completed 1 Terminated 1
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  • New registry aims to unlock secrets of rare dwarfism disorders

    Knowledge-focused Recruiting now

    This study creates a registry to collect health information from 200 people with rare forms of primordial dwarfism, such as MOPDII and Meier-Gorlin syndrome. Researchers hope to learn how these conditions change over a person's lifetime and improve future care. Participants provi…

    Sponsor: Nemours Children's Clinic • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:52 UTC

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