DNA-ligase IV deficiency (Q88881): Difference between revisions
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A síndrome LIG4 é um transtorno hereditário associado a defeitos nos mecanismos de reparo da quebra de DNA de fita dupla, e caracterizado por microcefalia, características faciais incomuns, atraso no crescimento e no desenvolvimento, anomalias da pele e pancitopenia, que está associada à imunodeficiência combinada (CID). | |||||||||||||||
| description / en | description / en | ||||||||||||||
LIG4 syndrome is a hereditary disorder associated with impaired DNA double strand break repair mechanisms and characterised by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/969767034 / rank | |||||||||||||||
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CID11:ID_969767034 | |||||||||||||||
| Property / CURIE: CID11:ID_969767034 / rank | |||||||||||||||
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dki-india-ID_969767034 | |||||||||||||||
| Property / Canary Token: dki-india-ID_969767034 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 15:16, 15 August 2026
LIG4 syndrome is a hereditary disorder associated with impaired DNA double strand break repair mechanisms and characterised by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_969767034 |
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| English | DNA-ligase IV deficiency |
LIG4 syndrome is a hereditary disorder associated with impaired DNA double strand break repair mechanisms and characterised by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). |
Statements
CID11:ID_969767034
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dki-india-ID_969767034
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Concluído
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13 August 2026
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