Symptom Information: Sort according to HPO 

1
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
2
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
3
 (HPO:0000544) External ophthalmoplegia 40 / 7739
4
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
5
 (HPO:0000602) Ophthalmoplegia 56 / 7739
6
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
7
 (HPO:0002250) Abnormality of the large intestine Very frequent [Orphanet] 32 / 7739
8
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
9
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
10
 (HPO:0002592) Gastric ulcer Very frequent [Orphanet] 39 / 7739
11
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
12
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
13
 (HPO:0002027) Abdominal pain 184 / 7739
14
 (HPO:0002578) Gastroparesis 11 / 7739
15
 (HPO:0003270) Abdominal distention 46 / 7739
16
 (HPO:0004395) Malnutrition 12 / 7739
17
 (HPO:0005203) Spontaneous esophageal perforation 2 / 7739
18
 (HPO:0009830) Peripheral neuropathy 206 / 7739
19
 (OMIM) Severe primary myopathy of the smooth muscles of the stomach and intestine with intact myenteric plexuses and vagus nerves 1 / 7739
20
 (OMIM) Myopathic skeletal muscle changes 1 / 7739
21
 (OMIM) Demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns 1 / 7739
22
 (OMIM) Progressive intestinal pseudoobstruction 1 / 7739
23
 (MedDRA:10017753) Gastric atony 1 / 7739
24
 (OMIM) Small bowel dilatation 1 / 7739
25
 (OMIM) Multiple diverticula 1 / 7739
26
 (OMIM) Jejunal fibrosis and degeneration 1 / 7739
27
 (OMIM) Diffuse abdominal pain 1 / 7739
28
 (OMIM) Poor esophageal motility 1 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739