|
1
|
(HPO:0002027)
|
Abdominal pain |
rare [HPO:skoehler]
|
|
|
|
184 / 7739
|
|
2
|
(HPO:0003223)
|
Decreased methylcobalamin |
|
|
|
|
11 / 7739
|
|
3
|
(HPO:0100502)
|
Vitamin B12 deficiency |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
|
4
|
(OMIM)
|
Meteorism (gaseous distention of the stomach or intestine) |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Diarrhea, chronic, early-onset mild |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Dehydration in infancy (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Metabolic acidosis in infancy (in some patients) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Electrolyte disturbances in infancy (in some patients) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Small-bowel obstruction due to volvulus (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Small-bowel obstruction due to adhesions (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Small-bowel obstruction due to ileal inflammation (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0100280)
|
Crohn's disease |
|
|
|
|
3 / 7739
|
|
13
|
(MedDRA:10023003)
|
Irritable bowel syndrome |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Esophagitis, with or without esophageal hernia (in some patients) |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|