curated
17,20-Lyase Deficiency, Isolated 17-Hydroxysteroid Dehydrogenase Deficiency 2,4-Dienoyl-CoA Reductase Deficiency 21-hydroxylase deficiency 22q13.3 Deletion Syndrome 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 2-Methylbutyryl-CoA Dehydrogenase Deficiency 3 beta-Hydroxysteroid dehydrogenase deficiency 3-@METHYLGLUTACONIC ACIDURIA, TYPE I 3-@METHYLGLUTACONIC ACIDURIA, TYPE V 3C syndrome 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 3-methylcrotonyl CoA carboxylase 1 deficiency 3-methylcrotonyl CoA carboxylase 2 deficiency 3-Methylglutaconic aciduria type 2 3-Methylglutaconic aciduria type 3 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME 4-5 finger syndactyly 46, XY Disorders of Sex Development 46, XY Sex Reversal 5 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 46,XY GONAD