|
1
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
6
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
8
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
9
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0002570)
|
Steatorrhea |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
12
|
(HPO:0003146)
|
Hypocholesterolemia |
|
|
|
|
9 / 7739
|
|
13
|
(HPO:0003563)
|
Hypobetalipoproteinemia |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0002630)
|
Fat malabsorption |
|
|
|
|
11 / 7739
|
|
16
|
(OMIM)
|
Severe diarrhea |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Jejunal endoscopy shows white epithelium |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Small bowel enterocytes accumulate lipid droplets in membrane-bound compartments or in the cytoplasm |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Neurologic deficits may occur secondarily to malabsorption |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
21
|
(OMIM)
|
Deficiency of fat-soluble vitamins |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Normal serum triglycerides |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Absence of chylomicrons in lymph and plasma |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Defect in chylomicron secretion |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|