|
1
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000143)
|
Rectovaginal fistula |
|
|
|
|
18 / 7739
|
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
7
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0001194)
|
Abnormalities of placenta or umbilical cord |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
16
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
17
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
18
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
19
|
(HPO:0001669)
|
Transposition of the great arteries |
|
|
|
|
36 / 7739
|
|
20
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
21
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
22
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
23
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
24
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
25
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
26
|
(Orphanet:13140)
|
Long/large ear |
|
|
|
|
4 / 7739
|
|
27
|
(OMIM)
|
Short, webbed neck |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Short esophagus |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Intrathoracic stomach |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Klippel-Feil anomaly |
|
|
|
|
3 / 7739
|
|
31
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
32
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
33
|
(OMIM)
|
Four vessel umbilical cord |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0400004)
|
Long ear |
|
|
|
|
94 / 7739
|