Ohdo 综合征,Say-Barber-Biesecker-Young-Simpson 变异(SBBYSS)的英文名字是Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant(SBBYSS)。基因解码表明:佳学基因通过基因解码发现,Ohdo综合征,Say-Barber-Biesecker-Young-Simpson变异(SBBYSS)是由基因突变引起的。具体来说,这种综合征与KAT6B基因的突变相关...
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and hearing abnormalities. There has been little psychiatric or ...
眼睑裂和智力低下综合征Say-Barber/Biesecker/Young-Simpson 型的英文名字是Blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type。基因解码表明:眼睑裂和智力低下综合征Say-Barber/Biesecker/Young-Simpson型是一种罕见的遗传疾病,其发生与基因突变有关。 该综合征与FOXL2基因...
Say-Barber-Biesecker Syndrome (SBBS) rarechromo.org Unique lists other organisations’ message boards and websites in order to be helpful to families looking for information and support. This does not imply that we endorse their content or have any responsibility for it. This guide is not ...
睑裂-智力缺陷综合征Say-Barber/Biesecker/Young-Simpson 型的英文名称是Blepharophimosis-intellectual deficit syndrome,Say-Barber/Biesecker/Young-Simpson type。Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type是一种罕见的遗传性疾病,主要特征包括眼睑狭窄(blepharophimosis)、...
Say-Barber-Biesecker/Young-Simpson综合征(SBBYSS)(MIM#603736)是Ohdo综合征(249620)的一种变异类型[1],其主要临床表现为特征性的颜面部异常及严重的智力障碍,颜面部异常包括面具脸、球形鼻、上唇薄等,婴儿期可表现出严重的肌张力低下...
Say-Barber-Biesecker syndrome Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, bleph... J Claytonsmith,J O'Sullivan,S Daly,... - 《American Journal of Human Genetics》 被引量: 0发表: 2011年...
Say-Barber/Biesecker/Young-Simpson型综合征:这是与Blepharophimosis and mental retardation syndrome相似的一种遗传性疾病,特征包括眼睑狭窄、智力发育迟缓和面部特征异常。 2. 眼睑狭窄-智力发育迟缓综合征:这是一组疾病,包括Blepharophimosis and mental retardation syndrome在内,特征为眼睑狭窄和智力发育迟缓。 3....
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSSSay-Barber-Biesecker-Young-Simpson syndrome (SBBYSdoi:10.1111/cge.12840HikkelovaAlphamedicalM.AlphamedicalKadasiAlphamedicalL.AlphamedicalDurovcikovaAlphamedicalD.AlphamedicalRadvanszkyAlphamedical...
We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidism...