|
1
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
2
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
3
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
4
|
(HPO:0000988)
|
Skin rash |
|
|
|
|
98 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
8
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
10
|
(HPO:0002570)
|
Steatorrhea |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
12
|
(HPO:0003193)
|
Allergic rhinitis |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0004490)
|
Calvarial hyperostosis |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0010972)
|
Anemia of inadequate production |
|
|
|
|
10 / 7739
|
|
16
|
(OMIM)
|
Poor growth due to malnutrition |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Maldentition |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Exocrine pancreatic deficiency |
|
|
|
|
6 / 7739
|
|
19
|
(MedDRA:10033603)
|
Pancreatic atrophy |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Fatty infiltration of the pancreas |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Large box-shaped skull |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thickened parietal bones |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Scaly skin rash over the perineum |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Hyperpigmented lesions, 0.2-0.5 cm |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Delayed psychomotor development, mild |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Difficulties in school |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Impaired coagulation due to malnutrition |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
|
|
|
|
23 / 7739
|
|
30
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|