|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
6
|
(HPO:0000647)
|
Sclerocornea |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
8
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
9
|
(HPO:0002991)
|
Abnormality of the fibula |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
10
|
(HPO:0003041)
|
Humeroradial synostosis |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
11
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
18
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
19
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
20
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
21
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
24
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
25
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
26
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
27
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
28
|
(HPO:0005093)
|
Absent proximal radial epiphyses |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
30
|
(HPO:0009821)
|
Forearm undergrowth |
|
|
|
|
8 / 7739
|
|
31
|
(OMIM)
|
Microsclerocornea |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Narrow, pointed nose |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Shortened radii and ulnae |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Pes planus valgus |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Atrophic calf muscles |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Mental retardation, mild, some patients (IQ 70-80) |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|