1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
3
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
4
|
(HPO:0000771)
|
Gynecomastia |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
6
|
(HPO:0005103)
|
Calcification of the auricular cartilage |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
7
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
8
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
9
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
10
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
12
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
13
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
14
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
16
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
17
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
18
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
19
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
20
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
21
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
22
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
23
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
24
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
25
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
26
|
(HPO:0012062)
|
Bone cyst |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
28
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
29
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
30
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
31
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
32
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
33
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
34
|
(HPO:0001115)
|
Posterior polar cataract |
|
|
|
|
8 / 7739
|
35
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
36
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
37
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
38
|
(HPO:0002221)
|
Absent axillary hair |
|
|
|
|
6 / 7739
|
39
|
(HPO:0002550)
|
Absent facial hair |
|
|
|
|
3 / 7739
|
40
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
41
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
42
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
43
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
44
|
(HPO:0005121)
|
Posterior scalloping of vertebral bodies |
|
|
|
|
4 / 7739
|
45
|
(HPO:0005758)
|
Basilar impression |
|
|
|
|
6 / 7739
|
46
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
47
|
(HPO:0008541)
|
Superiorly displaced ears |
|
|
|
|
1 / 7739
|
48
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
49
|
(OMIM)
|
Downward sloping ribs |
|
|
|
|
1 / 7739
|
50
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
51
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
52
|
(OMIM)
|
Cystic bone lesions |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Short terminal phalanges |
|
|
|
|
5 / 7739
|
54
|
(OMIM)
|
Flexed toes |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Dystrophic fingernails and toenails |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Absent facial, axillary, body hair |
|
|
|
|
1 / 7739
|
57
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
58
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
59
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
60
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
61
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
62
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
63
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
64
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
65
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
66
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
67
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
68
|
(HPO:0000717)
|
Autism |
rare [HPO:skoehler]
|
|
|
|
108 / 7739
|
69
|
(HPO:0000718)
|
Aggressive behavior |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
70
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
71
|
(HPO:0001956)
|
Truncal obesity |
|
|
|
|
39 / 7739
|
72
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
73
|
(HPO:0002514)
|
Cerebral calcification |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
74
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
75
|
(HPO:0008689)
|
Bilateral cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
38 / 7739
|
76
|
(HPO:0040160)
|
Generalized osteoporosis |
|
|
|
|
7 / 7739
|
77
|
(HPO:0100716)
|
Self-injurious behavior |
rare [HPO:skoehler]
|
|
|
|
43 / 7739
|