|
1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
5
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
6
|
(HPO:0100735)
|
Hypertensive crisis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
8
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
|
|
151 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0001602)
|
Laryngeal stenosis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0000162)
|
Glossoptosis |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
18
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
19
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
20
|
(HPO:0006824)
|
Cranial nerve paralysis |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
21
|
(HPO:0010628)
|
Facial palsy |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
22
|
(HPO:0000171)
|
Microglossia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
24
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
25
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
26
|
(HPO:0009465)
|
Ulnar deviation of finger |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
|
27
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
28
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
29
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
30
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
31
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
|
32
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
33
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
34
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
35
|
(HPO:0009751)
|
Aplasia of the pectoralis major muscle |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
|
36
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
37
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
38
|
(OMIM)
|
Moebius sequence |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Unusual face |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
43
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|