DAX1 Deficiency

**Semantic type:** Finding

**Definition:** Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita that may be associated with hypogonadotropic hypogonadism.

**Synonyms:** - Cytomegalic Form of AHC - DSS-AHC Critical Region on the X Chromosome 1 Deficiency - Dosage Sensitive Sex Reversal - Adrenal Hypoplasia Congenita Critical Region On The X Chromosome 1 Deficiency - Dosage Sensitive Sex Reversal - Adrenal Hypoplasia Congenita Critical Region on the X Chromosome 1 Deficiency - NR0B1 Deficiency - Nuclear Receptor DAX1 Deficiency - Nuclear Receptor Subfamily 0 Group B Member 1 Deficiency - Nuclear Receptor Subfamily 0 Group B Member 1 Deficiency