Teebi Hypertelorism Syndrome 1 (TBHS1)

Teebi Hypertelorism Syndrome 1(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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Teebi Hypertelorism Syndrome 1, also known as teebi hypertelorism syndrome, is related to widow's peak and oblique facial cleft. An important gene associated with Teebi Hypertelorism Syndrome 1 is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include bone and uterus, and related phenotypes are hypertelorism and thick eyebrow
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基础信息

遗传方式
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参考文献
MALACARDS
AD
Newborn
<1/1000000
18
92
63

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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