|
1
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000523)
|
Subcapsular cataract |
|
|
|
|
12 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
12
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
|
|
|
|
37 / 7739
|
|
13
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
14
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
15
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
16
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
17
|
(HPO:0012472)
|
Eclabion |
|
|
|
|
7 / 7739
|
|
18
|
(OMIM)
|
Lipid droplets in basal keratinocytes |
|
|
|
|
1 / 7739
|
|
19
|
(MedDRA:10073736)
|
Diffuse alopecia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Lipid droplets in granulocytes |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|