Disorders
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- 10p13-p14 Deletion Syndrome OMIM
- DiGeorge Syndrome 2
- Velocardiofacial Syndrome 2 OMIM
- 11p15-p14 Deletion Syndrome OMIM
- 15q13.3 Microdeletion GeneReviewOMIM
- 15q24 Microdeletion Syndrome GeneReviewOMIM
- 16p11.2 Microdeletion GeneReviewOMIM
- 17-beta Hydroxysteroid Dehydrogenase III Deficiency OMIM
- 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency OMIM
- 1p36 Deletion Syndrome GeneReviewOMIM
- 1q21.1 Deletion GeneReviewOMIM
- 2,4-Dienoyl-CoA Reductase Deficiency OMIM
- 22q11.2 Deletion Syndrome GeneReviewOMIM
- Cayler Cardiofacial Syndrome
- Conotruncal Anomaly Face Syndrome
- DiGeorge Syndrome
- Opitz G/BBB Syndrome, Autosomal Dominant OMIM
- Sedlackova Syndrome
- Velocardiofacial Syndrome
- 22q11.2 Distal Deletion Syndrome OMIM
- 22q11.2 Duplication GeneReviewOMIM
- 2p16.1-p15 Deletion Syndrome OMIM
- 2q37 Microdeletion Syndrome GeneReviewOMIM
- 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency OMIM
- 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency OMIM
- 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency OMIM
- 3-M Syndrome GeneReviewOMIM
- 3-M Syndrome, CCDC8-Related OMIM
- 3-M Syndrome, CUL7-Related OMIM
- 3-M Syndrome, OBSL1-Related OMIM
- 3-Methylcrotonyl-CoA Carboxylase Deficiency OMIM
- MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency OMIM
- MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency OMIM
- 3-Methylglutaconic Aciduria Type 1 OMIM
- 3-Methylglutaconic Aciduria Type 2 OMIM
- 3-Methylglutaconic Aciduria Type 3 GeneReviewOMIM
- 3-Methylglutaconic Aciduria Type 5 OMIM
- 3q29 Deletion Syndrome OMIM
- 46,XX Testicular Disorder of Sex Development GeneReviewOMIM
- SRY-Negative 46,XX Testicular Disorder of Sex Development OMIM
- SRY-Positive 46,XX Testicular Disorder of Sex Development OMIM
- 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis GeneReviewOMIM
- DHH-Related 46,XY DSD and 46,XY CGD OMIM
- MAP3K1-Related 46,XY DSD and 46,XY CGD OMIM
- NR0B1-Related 46,XY DSD and 46,XY CGD OMIM
- NR5A1-Related 46,XY DSD and 46,XY CGD OMIM
- SRY-Related 46,XY DSD and 46,XY CGD OMIM
- WNT4-Related 46,XY DSD and 46,XY CGD OMIM
- 5q22 Deletion Syndrome OMIM
- 6-Pyruvoyltetrahydropterin Synthase Deficiency OMIM
- 9q22.3 Microdeletion GeneReview