Teebi Hypertelorism Syndrome 1 (TBHS1)

Teebi超距综合征1型(来自ICD-11)

别称:

Teebi Hypertelorism Syndrome

Brachycephalofrontonasal Dysplasia

Specc1l-Related Hypertelorism Syndrome

Hypertelorism, Teebi Type

Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype

Tbhs1

Tbhs

Hypertelorism with Esophageal Abnormality and Hypospadias, Formerly

Hypertelorism with Esophageal Abnormality and Hypospadias

Opitz Oculogenitolaryngeal Syndrome, Type Ii, Formerly

Hypertelorism-Hypospadias Syndrome, Formerly

Opitz Oculogenitolaryngeal Syndrome, Type Ii

Opitz Gbbb Syndrome, Autosomal Dominant

Opitz Gbbb Syndrome, Type Ii, Formerly

Opitz Bbbg Syndrome, Type Ii, Formerly

Opitz Bbb Syndrome, Type Ii, Formerly

Opitz-G Syndrome, Type Ii, Formerly

Hypertelorism-Hypospadias Syndrome

Hypertelorism, Teebi Type Syndrome

Opitz-Frias Syndrome, Formerly

Teebi Hypertelorism Syndrome-1

Hypospadias-Dysphagia Syndrome

Opitz Gbbb Syndrome, X-Linked

Opitz Gbbb Syndrome, Type Ii

Opitz Gbbb Syndrome Type Ii

Opitz-G Syndrome, Type Ii

Opitz-G Syndrome, Type 2

Opitz-Frias Syndrome

Opitz Bbbg Syndrome

Digeorge Syndrome

Gbbb2, Formerly

Bbbg2, Formerly

Ogs2, Formerly

Teebi Syndrome

Gbbb Syndrome

Bbb Syndrome

G Syndrome

Ogs2

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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

Teebi Hypertelorism Syndrome 1，也被称为Teebi hypertelorism syndrome，与寡妇峰和斜面面部裂有关。与Teebi Hypertelorism Syndrome 1相关的基因是SPECC1L（精子抗原具有钙粘蛋白同源性和卷曲螺旋域1样）。在该疾病的背景下提到了多巴胺和利培酮。附属组织包括骨和子宫，相关表型为双侧额宽和浓眉。

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