Disease: X-linked Adrenal Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.010 Biomarker 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