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blepharophimosis, ptosis, and epicanthus inversus syndrome
MONDO:0007201
congenital lipoid adrenal hyperplasia due to STAR deficency
MONDO:0008725
ataxia telangiectasia
MONDO:0008840
classic galactosemia
MONDO:0009258
46 XX gonadal dysgenesis
MONDO:0009299
premature ovarian failure 2A
MONDO:0010350