|
1
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
4
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0005249)
|
Functional intestinal obstruction |
|
|
|
|
3 / 7739
|
|
6
|
(OMIM)
|
Hyperactive, nonpropulsive contractions of a dilated esophagus and small intestine |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Extensive colonic diverticulosis |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Argyrophil myenteric plexus defect |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Small, irregular, poorly reactive pupils |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Denervation pupillary hypersensitivity |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Impaired vibratory and position senses |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Myenteric and other neurons contain round, eosinophilic intranuclear proteinaceous inclusions consisting of an irregular array of nonviral, nonmembrane bound filaments by electron microscopy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Small intestine short |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Pyloric hypertrophy |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Absent ongoing peristalsis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Bowel wall thick |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Episodic abdominal pain, distention and vomiting |
|
|
|
|
1 / 7739
|