|
1
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
15
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
18
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
19
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
20
|
(HPO:0001265)
|
Hyporeflexia |
rare [HPO:skoehler]
|
|
|
|
208 / 7739
|
|
21
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
22
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
23
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
24
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
25
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
26
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
27
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
28
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
29
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
30
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
31
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
32
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
33
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
36
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
37
|
(OMIM)
|
Atrophy of the granular cell layer of the cerebellum |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Abnormal Purkinje cells |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Reactive gliosis |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
43
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
44
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|