Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
4
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
5
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
6
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
7
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
10
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
11
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
12
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
13
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
14
 (HPO:0002827) Hip dislocation 94 / 7739
15
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
16
 (HPO:0001850) Abnormality of the tarsal bones Frequent [Orphanet] 40 / 7739
17
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
18
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
19
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
20
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
21
 (HPO:0005048) Synostosis of carpal bones Frequent [Orphanet] 39 / 7739
22
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
23
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
24
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
27
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
28
 (HPO:0000448) Prominent nose 56 / 7739
29
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
30
 (HPO:0000268) Dolichocephaly 144 / 7739
31
 (HPO:0000506) Telecanthus 156 / 7739
32
 (HPO:0000670) Carious teeth 145 / 7739
33
 (HPO:0001371) Flexion contracture 220 / 7739
34
 (HPO:0002265) Large fleshy ears 5 / 7739
35
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
36
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
37
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
38
 (HPO:0005659) Thoracic kyphoscoliosis 2 / 7739
39
 (HPO:0006282) Generalized hypoplasia of dental enamel 1 / 7739
40
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
41
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
42
 (HPO:0010864) Intellectual disability, severe 120 / 7739
43
 (HPO:0011039) Abnormality of the helix Frequent [Orphanet] 33 / 7739
44
 (OMIM) Marked myopia 1 / 7739
45
 (OMIM) Growth retardation, severe (if untreated) 5 / 7739
46
 (OMIM) Severe enamel dysplasia 1 / 7739
47
 (OMIM) Severe caries 1 / 7739
48
 (OMIM) Bilateral dislocated hips 1 / 7739
49
 (HPO:0009473) Joint contracture of the hand 84 / 7739
50
 (OMIM) Fifth digits short, esp. second phalanges 1 / 7739
51
 (OMIM) Slight cutaneous syndactyly, all digits 1 / 7739
52
 (OMIM) Large soft ears 1 / 7739
53
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
54
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
55
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
57
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
58
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739