|
1
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0001539)
|
Omphalocele |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0000774)
|
Narrow chest |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
167 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0002000)
|
Short columella |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
8
|
(HPO:0001602)
|
Laryngeal stenosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
135 / 7739
|
|
12
|
(HPO:0000465)
|
Webbed neck |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
13
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
14
|
(HPO:0000600)
|
Abnormality of the pharynx |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
15
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
16
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
19
|
(HPO:0005338)
|
Sparse lateral eyebrow |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
21
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
22
|
(HPO:0000454)
|
Flared nostrils |
|
|
|
|
11 / 7739
|
|
23
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
|
24
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
26
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
27
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
28
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
29
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
30
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
31
|
(HPO:0005956)
|
Anteroposteriorly shortened larynx |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0008749)
|
Laryngeal hypoplasia |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0009555)
|
Hypoplasia of the pharynx |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Mildly dysmorphic facies |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Unusual eyebrow pattern |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
S-shaped eyelids |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Downturned oral commissures |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Pharyngeal hypoplasia |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Constricted glottic and subglottic airway |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
41
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
42
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
43
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
44
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
45
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
46
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
47
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|