| cAMP-response element binding protein (CREBBP)
|
16p13 |
Bilateral cryptorchidism |
| Dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRKA1)
|
21q3 |
Micropenis, chordee, hypospadias, congenital anomalies of the kidney and urinary tract |
| EYA transcriptional co-activator and phosphatase 1 (EYA1)
|
8q13 |
Hypospadias, renal anomalies |
| Fibroblast growth factor receptor 2 (FGFR2)
|
10q26 |
Urethral formation, hypospadias, cryptorchidism, reduced testicular size, and renal anomalies |
| Hepatocyte nuclear factor 1β (HNF1B)
|
17q12 |
Renal anomalies, cryptorchidism, vasal agenesis, epididymal cysts, hypospadias, and asthenospermia |
| Insulin-like peptide 3 (INSL3)
|
19p13 |
Cryptorchidism |
| Kidney ankyrin repeat-containing protein 1 (KANK1)
|
9p23 |
Cryptorchidism, micropenis, hypospadias, urethral and scrotal development, and renal anomalies |
| Potassium channel tetramerization domain containing 13 (KCTD13)
|
16p11.2 |
Cryptorchidism, hypospadias, micropenis, and VUR |
| Methyl CpG binding protein 2 (MECP2)
|
Xq28 |
Cryptorchidism, hypospadias, hydronephrosis, urethral abnormalities |
| Orthodenticle homeobox 1 (OTX1)
|
2p15 |
Micropenis, abnormal scrotum, cryptorchidism, small testis, bladder exstrophy, epispadias, and renal anomalies |
| Paired box gene 2 (PAX2)
|
10q24 |
Renal anomalies, vesicoureteral reflux, cryptorchidism |
| Phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1)
|
5q13 |
Cryptorchidism and decreased testicular size |
| RNA binding FOX-1 homolog 2 (RBFOX2)
|
22q12 |
Renal development, hypospadias, scrotal development |
| SH2B adaptor protein (SH2B1)
|
16p11.2 |
Hypospadias |
| Vesicle-associated membrane protein (VAMP7)
|
Xq28 |
Hypospadias, reduced penile length and cryptorchidism |
