|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0002247)
|
Duodenal atresia |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0100867)
|
Duodenal stenosis |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
7
|
(HPO:0003363)
|
Abdominal situs inversus |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
8
|
(HPO:0000774)
|
Narrow chest |
Occasional [Orphanet]
|
|
|
|
167 / 7739
|
|
9
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
10
|
(HPO:0000072)
|
Hydroureter |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
11
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
14
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
15
|
(HPO:0000337)
|
Broad forehead |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
16
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
17
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
18
|
(HPO:0000843)
|
Hyperparathyroidism |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
19
|
(HPO:0000021)
|
Megacystis |
|
|
|
|
7 / 7739
|
|
20
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
21
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
22
|
(HPO:0010956)
|
Fetal megacystis |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Thinning and extensive collagen replacement of hollow viscus longitudinal muscle layer |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Normal ganglion cells |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Esophageal motor dysfunction |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0002244)
|
Abnormality of the small intestine |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
28
|
(HPO:0000079)
|
Abnormality of the urinary system |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
29
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
30
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
31
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
32
|
(HPO:0001804)
|
Hypoplastic fingernail |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
33
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
36
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
37
|
(HPO:0001733)
|
Pancreatitis |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
|
38
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
39
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
40
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
41
|
(HPO:0004388)
|
Microcolon |
|
|
|
|
5 / 7739
|
|
42
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|