Nijmegen breakage syndrome (Q67309): Difference between revisions
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A síndrome de quebras de Nijmegen é um transtorno raro de reparo do DNA que se apresenta ao nascimento com microcefalia e características faciais dismórficas, tornando-se mais perceptível com a idade, com retardo de crescimento e complicações de início tardio, como doenças malignas e infecções. | |||
| description / en | description / en | ||
Nijmegen breakage syndrome is a rare DNA repair disorder presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. | |||
Revision as of 15:08, 14 August 2026
Nijmegen breakage syndrome is a rare DNA repair disorder presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1925662580 |
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| English | Nijmegen breakage syndrome |
Nijmegen breakage syndrome is a rare DNA repair disorder presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. |
