|
1
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
4
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
6
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002654)
|
Multiple epiphyseal dysplasia |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0003474)
|
Sensory impairment |
|
|
|
|
54 / 7739
|
|
9
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
12
|
(OMIM)
|
Sensorineural deafness, progressive |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Electrocardiographic abnormalities |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Shortening of the metacarpals |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Shortening of the metatarsals |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Increased CSF protein with normal cell count |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Limb atrophy |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Nerve hypertrophy |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Increased phytanic acid in body tissues and fluids |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased phytanic acid oxidase activity |
|
|
|
|
1 / 7739
|