|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0001052)
|
Nevus flammeus |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
8
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
9
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
10
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
11
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
12
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
15
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
16
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
17
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
18
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
19
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
20
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
21
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
22
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
23
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
24
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
25
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
26
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
27
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
28
|
(HPO:0005059)
|
Arthralgia/arthritis |
|
|
|
|
141 / 7739
|
|
29
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
30
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
31
|
(HPO:0003037)
|
Enlarged joints |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0003088)
|
Premature osteoarthritis |
|
|
|
|
10 / 7739
|
|
33
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
|
34
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
35
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
36
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
37
|
(HPO:0004679)
|
Large tarsal bones |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0005003)
|
Aplasia/Hypoplasia of the capital femoral epiphysis |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0006237)
|
Prominent interphalangeal joints |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
41
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
42
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
43
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
44
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
45
|
(OMIM)
|
No ocular symptoms |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Enlarged odontoid (childhood) |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Anterior vertebral wedging (childhood) |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Square iliac wings |
|
|
|
|
2 / 7739
|
|
49
|
(HPO:0006375)
|
Dumbbell-shaped femur |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Absent-small capital femoral epiphyses (infancy-early childhood) |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Wide flat epiphyses |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
53
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
54
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|