|
1
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
8
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
10
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
11
|
(HPO:0002242)
|
Abnormality of the intestine |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
13
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
14
|
(HPO:0010783)
|
Erythema |
|
|
|
|
138 / 7739
|
|
15
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
16
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(OMIM)
|
Increased very-long chain fatty acids |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|