|
1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
3
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0004385)
|
Protracted diarrhea |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
7
|
(OMIM)
|
Infantile death often |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Hypoplastic villus atrophy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Surface enterocytes have intracytoplasmic inclusions composed of neatly arranged brush-border microvilli on EM |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0002242)
|
Abnormality of the intestine |
|
|
|
|
42 / 7739
|
|
11
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|