| H00727 | |
| H number | H00727 |
| Name | Athabascan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome |
| Description | Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac malformations are also present in patients with these disorders. |
| Category | Congenital malformation |
| Network | - |
| Gene | HOXA1 [HSA:3198] [KO:K09301] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2H.Y ICD-10: Q87.8 MeSH: C535397 OMIM: 601536 |
| Reference | PMID:18412118 AUTHORS Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP TITLE The clinical spectrum of homozygous HOXA1 mutations. JOURNAL Am J Med Genet A 146A:1235-40 (2008) DOI:10.1002/ajmg.a.32262 PMID:17875913 AUTHORS Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC TITLE Clinical characterization of the HOXA1 syndrome BSAS variant. JOURNAL Neurology 69:1245-53 (2007) DOI:10.1212/01.wnl.0000276947.59704.cf PMID:12833395 AUTHORS Holve S, Friedman B, Hoyme HE, Tarby TJ, Johnstone SJ, Erickson RP, Clericuzio CL, Cunniff C TITLE Athabascan brainstem dysgenesis syndrome. JOURNAL Am J Med Genet A 120A:169-73 (2003) DOI:10.1002/ajmg.a.20087 |