Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Comprehensive, easy-to-understand information about this condition
Checking for content...
blepharophimosis, ptosis, and epicanthus inversus syndrome
MONDO:0007201
congenital lipoid adrenal hyperplasia due to STAR deficency
MONDO:0008725
ataxia telangiectasia
MONDO:0008840
galactokinase deficiency
MONDO:0009255
galactose epimerase deficiency
MONDO:0009257
46 XX gonadal dysgenesis
MONDO:0009299