Teebi Hypertelorism Syndrome 1 (TBHS1)

Alias:

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

Related ID：

MALACARDS：TBH003

OMIM：145420

MESH：D006972