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GTR Home > Conditions/Phenotypes > Vertebral anomalies and variable endocrine and T-cell dysfunction

Summary

Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018). [from OMIM]

Available tests

1 test is in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: VETD, TBX2
    Summary: T-box transcription factor 2

Clinical features

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