沃夫-賀許宏氏症候群
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| 沃夫-賀許宏氏症候群 Wolf-Hirschhorn syndrome | |
|---|---|
| A neonate with Wolf-hirschhorn syndrome | |
| 类型 | chromosomal deletion syndrome[*], partial deletion of the short arm of chromosome 4[*], disease of a particular individual[*] |
| 分类和外部资源 | |
| 醫學專科 | 醫學遺傳學 |
| ICD-10 | Q93.3 |
| ICD-9-CM | 758.3 |
| OMIM | 194190 |
| DiseasesDB | 32279 |
| eMedicine | ped/2446 |
| Patient UK | [https://patient.info/doctor/Wolf-Hirschhorn-Syndrome Wolf-Hirschhorn-Syndrome 沃夫-賀許宏氏症候群] |
| Orphanet | 280 |
沃夫-賀許宏氏症候群(Wolf–Hirschhorn syndrome,簡寫WHS),是一種基與人类第4号染色体的遺傳基因缺陷而引起的疾病。
特徵
生長發育遲緩、心智障礙,還伴有癲癇症狀。
遺傳
參考資料
外部連結
- WolfHirschhorn.org (页面存档备份,存于互联网档案馆)
- whs at NIH/UW GeneTests
- Wolf-Hirschhorn syndrome (页面存档备份,存于互联网档案馆) at www.orpha.net (Adobe .pdf format)
- 4P- Support Group (页面存档备份,存于互联网档案馆)
- Wolf Hirschhorn Syndrome Trust for the UK and Ireland (页面存档备份,存于互联网档案馆)
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