|
1
|
(HPO:0100732)
|
Pancreatic fibrosis |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
26089585
|
IBIS
|
206 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
10
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
11
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
12
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
13
|
(HPO:0001251)
|
Ataxia |
|
|
26089585
|
IBIS
|
413 / 7739
|
|
14
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
15
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
16
|
(HPO:0000648)
|
Optic atrophy |
|
|
26089585
|
IBIS
|
238 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
26089585
|
IBIS
|
1089 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
20
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
23
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
24
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
25
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
26
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
27
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
28
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
29
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
30
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
31
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
|
|
17 / 7739
|
|
32
|
(HPO:0008311)
|
Spinal cord posterior columns myelin loss |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
34
|
(OMIM)
|
Hearing impairment, sensorineural |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Recurrent respiratory tract infections |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
37
|
(OMIM)
|
Flaccid tetraplegia |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Absence of myelin in the posterior column of the spinal cord (1 patient) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0007133)
|
Progressive peripheral neuropathy |
|
|
|
|
4 / 7739
|
|
40
|
(OMIM)
|
Delayed motor nerve conduction velocities |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Reduced serum uric acid |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Undetectable urinary hypoxanthine |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Decreased PRPP synthetase activity in erythrocytes and fibroblasts |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
45
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
46
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
47
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
48
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
49
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
26089585
|
IBIS
|
23 / 7739
|
|
50
|
(HPO:0011476)
|
Profound sensorineural hearing impairment |
|
|
26089585
|
IBIS
|
7 / 7739
|
|
51
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
26089585
|
IBIS
|
51 / 7739
|
|
52
|
(HPO:0001270)
|
Motor delay |
|
|
26089585
|
IBIS
|
322 / 7739
|
|
53
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
26089585
|
IBIS
|
28 / 7739
|
|
54
|
(HPO:0003819)
|
Death in childhood |
|
|
26089585
|
IBIS
|
42 / 7739
|