Ohdo Syndrome, Sbbys Variant (SBBYSS)

OHDO综合征SBBYS变异型(来自ICD-11)

别称:

Say-Barber-Biesecker-Young-Simpson Syndrome

Sbbyss

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Sbbys Variant of Ohdo Syndrome

Yss

Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Say-Barber-Biesecker Variant of Ohdo Syndrome

Ohdo Syndrome, Say-Barber-Biesecker Variant

Sbbyss Syndrome

Bmrs Sbbys

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Ohdo Syndrome, Sbbys Variant, 也被称为Say-Barber-Biesecker-Young-Simpson syndrome，与眼睑下垂和喉软骨发育不全有关。Ohdo Syndrome, Sbbys Variant 重要的相关基因是KAT6B（Lysine Acetyltransferase 6B），其相关通路/超级通路包括TP53活性调节和染色质组织。相关组织包括甲状腺和眼睛，相关表型包括智力障碍和甲状腺功能减退症。

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