Symptom Information: Sort according to HPO 

1
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
2
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
3
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
4
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
5
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
8
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
11
 (HPO:0100022) Abnormality of movement Occasional [Orphanet] 129 / 7739
12
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
13
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
14
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
15
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
16
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
17
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
18
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
19
 (HPO:0000164) Abnormality of the teeth 291 / 7739
20
 (HPO:0000499) Abnormality of the eyelashes Frequent [Orphanet] 35 / 7739
21
 (HPO:0000519) Congenital cataract 73 / 7739
22
 (HPO:0000764) Peripheral axonal degeneration 6 / 7739
23
 (HPO:0000786) Primary amenorrhea rare [HPO:skoehler] 61 / 7739
24
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
25
 (HPO:0001171) Split hand 72 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0001263) Global developmental delay 853 / 7739
28
 (HPO:0001270) Motor delay 322 / 7739
29
 (HPO:0001761) Pes cavus 225 / 7739
30
 (HPO:0001762) Talipes equinovarus 309 / 7739
31
 (HPO:0001999) Abnormal facial shape 169 / 7739
32
 (HPO:0002059) Cerebral atrophy 171 / 7739
33
 (HPO:0002072) Chorea 53 / 7739
34
 (HPO:0002751) Kyphoscoliosis 131 / 7739
35
 (HPO:0002816) Genu recurvatum 30 / 7739
36
 (HPO:0003431) Decreased motor nerve conduction velocity 51 / 7739
37
 (HPO:0003487) Babinski sign 179 / 7739
38
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
39
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
40
 (HPO:0007178) Motor polyneuropathy 31 / 7739
41
 (HPO:0007182) Peripheral hypomyelination 7 / 7739
42
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
43
 (HPO:0008214) Decreased serum estradiol 1 / 7739
44
 (HPO:0008734) Decreased testicular size rare [HPO:skoehler] 105 / 7739
45
 (HPO:0008942) Acute rhabdomyolysis 2 / 7739
46
 (HPO:0010620) Malar prominence 7 / 7739
47
 (HPO:0011096) Peripheral demyelination 28 / 7739
48
 (OMIM) Thickening of perioral tissues 1 / 7739
49
 (OMIM) Mandibular retrognathism 1 / 7739
50
 (OMIM) Bimaxillary dentoalveolar protrusion (protruding upper and lower front teeth) 1 / 7739
51
 (OMIM) Small testes (in some patients 1 / 7739
52
 (HPO:0000869) Secondary amenorrhea 42 / 7739
53
 (HPO:0100543) Cognitive impairment 230 / 7739
54
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
55
 (OMIM) Spinal cord atrophy 2 / 7739
56
 (OMIM) Motor neuropathy beginning in lower limbs 1 / 7739
57
 (OMIM) Upper limb motor neuropathy occurs later 1 / 7739
58
 (OMIM) Nerve biopsy shows hypomyelination 1 / 7739
59
 (OMIM) Axonal degeneration in older patients 1 / 7739
60
 (OMIM) Low-to-normal serum growth hormone 1 / 7739
61
 (OMIM) Decreased serum testosterone 2 / 7739
62
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
63
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
64
 (HPO:0003011) Abnormality of the musculature Frequent [Orphanet] 47 / 7739
65
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
66
 (HPO:0003593) Infantile onset 249 / 7739