|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0004331)
|
Decreased skull ossification |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
4
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
8
|
(HPO:0009776)
|
Adactyly |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
12
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
13
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
|
14
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
15
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
|
16
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
17
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
18
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
19
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
20
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
21
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|