Disease: Congenital hypoplasia of adrenal gland ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 GeneticVariation disease BEFREE Cytogenetic and molecular studies were performed in this boy and his parents with normal phenotype, showing that the boy had a maternally derived approximately 2 Mb interstitial Xp deletion involving DAX1 (DSS-AHC critical region on the X chromosome, gene 1) for adrenal hypoplasia congenita and disrupting IL1RAPL (interleukin-1 receptor accessory protein-like) for non-specific MR. 12940459 2003