|
1
|
(HPO:0001369)
|
Arthritis |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001518)
|
Small for gestational age |
rare [HPO:skoehler]
|
|
|
|
107 / 7739
|
|
4
|
(HPO:0002041)
|
Intractable diarrhea |
|
|
|
|
4 / 7739
|
|
5
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
6
|
(OMIM)
|
Crowded epithelial cells forming tufts |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
No lamina propria mononuclear cell infiltration |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Dependent on total parenteral nutrition (TPN) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Arthritis, chronic inflammatory (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Electrolyte disturbances from intractable diarrhea |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|