Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
3
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
4
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
5
 (HPO:0001939) Abnormality of metabolism/homeostasis Frequent [Orphanet] 328 / 7739
6
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
7
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
8
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
14
 (HPO:0002919) Ketonuria 18 / 7739
15
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
16
 (HPO:0008187) Absence of secondary sex characteristics 5 / 7739
17
 (OMIM) Peripheral muscle wasting 1 / 7739
18
 (OMIM) Secondary sex characteristics underdeveloped 1 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
20
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (HPO:0000135) Hypogonadism 89 / 7739
23
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
24
 (HPO:0000486) Strabismus 576 / 7739
25
 (HPO:0000718) Aggressive behavior 109 / 7739
26
 (HPO:0000786) Primary amenorrhea 61 / 7739
27
 (HPO:0001284) Areflexia 198 / 7739
28
 (HPO:0001761) Pes cavus 225 / 7739
29
 (HPO:0001762) Talipes equinovarus 309 / 7739
30
 (HPO:0001763) Pes planus 176 / 7739
31
 (HPO:0002300) Mutism 28 / 7739
32
 (HPO:0003593) Infantile onset 249 / 7739
33
 (HPO:0003676) Progressive disorder 148 / 7739