Symptom Information: Sort according to HPO 

1
 (HPO:0001182) Tapered finger Frequent [Orphanet] 93 / 7739
2
 (HPO:0000733) Stereotypy Frequent [Orphanet] 58 / 7739
3
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
4
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
5
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739
7
 (HPO:0004684) Talipes valgus Frequent [Orphanet] 28 / 7739
8
 (HPO:0009891) Underdeveloped supraorbital ridges Occasional [Orphanet] 36 / 7739
9
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
10
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
11
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
12
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
13
 (HPO:0000485) Megalocornea Very frequent [Orphanet] 26 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0001251) Ataxia 413 / 7739
16
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
17
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
18
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
19
 (HPO:0000218) High palate 356 / 7739
20
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
21
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
23
 (HPO:0003124) Hypercholesterolemia rare [HPO:skoehler] 53 / 7739
24
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
25
 (HPO:0000593) Abnormality of the anterior chamber Frequent [Orphanet] 15 / 7739
26
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
27
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
28
 (HPO:0000938) Osteopenia rare [HPO:skoehler] 138 / 7739
29
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
30
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
31
 (HPO:0000232) Everted lower lip vermilion Occasional [Orphanet] 90 / 7739
32
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
33
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
34
 (HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
35
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
36
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
37
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
38
 (HPO:0008053) Aplasia/Hypoplasia of the iris Frequent [Orphanet] 38 / 7739
39
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
40
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
41
 (HPO:0001249) Intellectual disability 1089 / 7739
42
 (HPO:0000294) Low anterior hairline 52 / 7739
43
 (HPO:0000311) Round face 104 / 7739
44
 (HPO:0000343) Long philtrum 262 / 7739
45
 (HPO:0000378) Cupped ear 34 / 7739
46
 (HPO:0000832) Primary hypothyroidism 4 / 7739
47
 (HPO:0001166) Arachnodactyly 62 / 7739
48
 (HPO:0001763) Pes planus 176 / 7739
49
 (HPO:0002015) Dysphagia 301 / 7739
50
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
51
 (HPO:0002188) Delayed CNS myelination 16 / 7739
52
 (HPO:0002265) Large fleshy ears 5 / 7739
53
 (HPO:0002370) Poor coordination 15 / 7739
54
 (HPO:0002816) Genu recurvatum 30 / 7739
55
 (HPO:0002857) Genu valgum 144 / 7739
56
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
57
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
58
 (HPO:0005280) Depressed nasal bridge 381 / 7739
59
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
60
 (HPO:0100693) Iridodonesis 3 / 7739
61
 (OMIM) Frontal bossing, mild 2 / 7739
62
 (OMIM) Abnormal auricles 4 / 7739
63
 (OMIM) Normal intraocular pressure 2 / 7739
64
 (HPO:0000520) Proptosis 192 / 7739
65
 (OMIM) Broad nasal root/bridge 1 / 7739
66
 (HPO:0000193) Bifid uvula 66 / 7739
67
 (HPO:0001761) Pes cavus 225 / 7739
68
 (HPO:0001765) Hammertoe 63 / 7739
69
 (HPO:0001822) Hallux valgus 70 / 7739
70
 (HPO:0001838) Rocker bottom foot 85 / 7739
71
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
72
 (HPO:0010547) Muscle flaccidity 466 / 7739
73
 (OMIM) Cerebral cortical atrophy, diffuse 1 / 7739
74
 (OMIM) Delayed myelination on brain MRI (reported in 1 patient) 1 / 7739
75
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
76
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
77
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739