Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
3
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
4
 (HPO:0001844) Abnormality of the hallux Very frequent [Orphanet] 3 / 7739
5
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
6
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
7
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
8
 (HPO:0010109) Short hallux Very frequent [Orphanet] 27 / 7739
9
 (HPO:0100249) Calcification of muscles Very frequent [Orphanet] 4 / 7739
10
 (HPO:0001822) Hallux valgus Occasional [Orphanet] 70 / 7739
11
 (HPO:0100240) Synostosis of joints Occasional [Orphanet] 11 / 7739
12
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
13
 (HPO:0003306) Spinal rigidity Very frequent [Orphanet] 30 / 7739
14
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
15
 (HPO:0002763) Abnormal cartilage morphology Very frequent [Orphanet] 15 / 7739
16
 (HPO:0001249) Intellectual disability 6% [HPO:probinson] 1089 / 7739
17
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
18
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
19
 (HPO:0000405) Conductive hearing impairment 164 / 7739
20
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
21
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
22
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
23
 (HPO:0000687) Widely spaced teeth 40 / 7739
24
 (HPO:0001596) Alopecia 162 / 7739
25
 (HPO:0002650) Scoliosis 705 / 7739
26
 (HPO:0003016) Metaphyseal widening 41 / 7739
27
 (HPO:0004629) Small cervical vertebral bodies 2 / 7739
28
 (HPO:0006429) Broad femoral neck 18 / 7739
29
 (HPO:0008449) Progressive cervical vertebral spine fusion 1 / 7739
30
 (HPO:0010034) Short 1st metacarpal 19 / 7739
31
 (HPO:0010054) Abnormality of the first metatarsal bone 1 / 7739
32
 (HPO:0011987) Ectopic ossification in muscle tissue 1 / 7739
33
 (HPO:0011988) Ectopic ossification in tendon tissue 1 / 7739
34
 (HPO:0011989) Ectopic ossification in ligament tissue 2 / 7739
35
 (OMIM) Jaw fixation 1 / 7739
36
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
37
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
38
 (OMIM) Flat, broad mandibular condyles 1 / 7739
39
 (OMIM) Painful swellings in tendons 1 / 7739
40
 (OMIM) Restricted arm mobility 1 / 7739
41
 (OMIM) Progressive ectopic ossification of tendons and ligaments 1 / 7739
42
 (OMIM) Joint immobility 1 / 7739
43
 (OMIM) Proximal medial tibial osteochondromas 1 / 7739
44
 (HPO:0009778) Short thumb 50 / 7739
45
 (OMIM) Reduction deficits of thumbs (in some patients) 1 / 7739
46
 (OMIM) Malformed first metatarsal 1 / 7739
47
 (OMIM) Monophalangism of first metatarsal 1 / 7739
48
 (OMIM) Reduction deficits of halluces (in some patients) 1 / 7739
49
 (OMIM) Painful swelling in aponeuroses 1 / 7739
50
 (OMIM) Painful swelling in fasciae 1 / 7739
51
 (OMIM) Progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters) 1 / 7739
52
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
53
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
54
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
55
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
56
 (HPO:0002878) Respiratory failure 57 / 7739