| H01238 | |
| H番号 | H01238 |
| 名称 | Phelan-McDermid 症候群 |
| 概要 | Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | SHANK3 [HSA:85358] [KO:K15009] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD44.NY ICD-10: Q93.5 MeSH: C536801 OMIM: 606232 |
| 文献 | PMID:11431708 著者 Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O タイトル Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. 雑誌 Am J Hum Genet 69:261-8 (2001) DOI:10.1086/321293 |