Joubert syndrome with congenital hepatic fibrosis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| COACH syndrome | C1857662 | RPGRIP1L | 17558407, 19574260, 17558409 |
| INPP5E | 19668216 | ||
| CC2D2A | 19574260, 22246503, 18950740, 18513680, 27959436 | ||
| TMEM67 | 18327255, 20607301, 19508969, 20615230, 19058225, 16415887, 17160906, 19574260, 26191240, 28860541, 613550 |