Nijmegen breakage syndrome (Q67309)
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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 |
||
| 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. |
Statements
CID11:ID_1925662580
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dki-india-ID_1925662580
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Concluído
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