Symptom Information: Sort according to HPO 

1
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
2
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
3
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
4
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
5
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
6
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
7
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
8
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
9
 (HPO:0010049) Short metacarpal 99 / 7739
10
 (HPO:0004684) Talipes valgus Frequent [Orphanet] 28 / 7739
11
 (HPO:0001257) Spasticity 251 / 7739
12
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
13
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
14
 (HPO:0010547) Muscle flaccidity 466 / 7739
15
 (HPO:0001251) Ataxia 413 / 7739
16
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
17
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
18
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
19
 (HPO:0002673) Coxa valga 57 / 7739
20
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
21
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
22
 (HPO:0001260) Dysarthria 329 / 7739
23
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
24
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
25
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
26
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0001263) Global developmental delay 853 / 7739
29
 (HPO:0000519) Congenital cataract 73 / 7739
30
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
31
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
32
 (HPO:0001371) Flexion contracture 220 / 7739
33
 (HPO:0001508) Failure to thrive 454 / 7739
34
 (HPO:0001510) Growth delay 295 / 7739
35
 (HPO:0001763) Pes planus 176 / 7739
36
 (HPO:0002070) Limb ataxia 41 / 7739
37
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
38
 (HPO:0002808) Kyphosis 289 / 7739
39
 (HPO:0002967) Cubitus valgus 49 / 7739
40
 (HPO:0003323) Progressive muscle weakness 17 / 7739
41
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
42
 (HPO:0008278) Cerebellar cortical atrophy 2 / 7739
43
 (HPO:0010743) Short metatarsal 56 / 7739
44
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
45
 (OMIM) Skeletal deformities due to severe myopathy and hypotonia 1 / 7739
46
 (OMIM) Pes planovalgus 2 / 7739
47
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
48
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
49
 (OMIM) Muscle biopsy showed myopathic changes 5 / 7739
50
 (OMIM) Vacuolar degeneration 1 / 7739
51
 (OMIM) Fatty infiltration 2 / 7739
52
 (OMIM) Autophagic rimmed vacuoles 1 / 7739
53
 (OMIM) Variation in fiber size 8 / 7739
54
 (OMIM) Necrotic and regenerating fibers 1 / 7739
55
 (OMIM) Type 1 fiber predominance 9 / 7739
56
 (OMIM) Dense membranous structure surrounding nuclei on electron microscopy 1 / 7739
57
 (OMIM) Mental retardation, mild to moderate 33 / 7739
58
 (HPO:0001272) Cerebellar atrophy 197 / 7739
59
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
60
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
61
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
64
 (HPO:0003593) Infantile onset 249 / 7739