A disease characterized by short stature and microcephaly apparent at birth, progressive post-natal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia.

Name Development Level Target Family
Name Description
TCRDv4.6.9
UniProt Disease