|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0002014)
|
Diarrhea |
Occasional [Orphanet]
|
|
|
|
225 / 7739
|
|
3
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
4
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
5
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
6
|
(HPO:0002251)
|
Aganglionic megacolon |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0005214)
|
Intestinal obstruction |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
9
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0200008)
|
Intestinal polyposis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
12
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
15
|
(HPO:0002242)
|
Abnormality of the intestine |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
16
|
(HPO:0012719)
|
Functional abnormality of the gastrointestinal tract |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
19
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
20
|
(HPO:0004362)
|
Abnormality of enteric ganglion morphology |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0004387)
|
Enterocolitis |
|
|
|
|
7 / 7739
|