| H00926 | |
| H number | H00926 |
| Name | Growth retardation, developmental delay, coarse facies, and early death |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | FTO [HSA:79068] [KO:K19469] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C567856 OMIM: 612938 |
| Reference | PMID:19559399 AUTHORS 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 TITLE Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. JOURNAL Am J Hum Genet 85:106-11 (2009) DOI:10.1016/j.ajhg.2009.06.002 |