| H00926 | |
| H番号 | H00926 |
| 名称 | Growth retardation, developmental delay, coarse facies, and early death |
| 概要 | This disease is characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth occurs due to intercurrent infection or unidentified cause in these patients. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | FTO [HSA:79068] [KO:K19469] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C567856 OMIM: 612938 |
| 文献 | PMID:19559399 著者 Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L タイトル Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. 雑誌 Am J Hum Genet 85:106-11 (2009) DOI:10.1016/j.ajhg.2009.06.002 |