|
|
(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
|
|
(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
|
|
(HPO:0000556) | Retinal dystrophy | 65 / 7739 | ||||
|
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
|
(HPO:0001319) | Neonatal hypotonia | 101 / 7739 | ||||
|
|
(HPO:0001410) | Decreased liver function | 59 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |