|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
3
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
6
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
7
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
9
|
(HPO:0002235)
|
Pili canaliculi |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
11
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
12
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0002583)
|
Colitis |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
15
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
16
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0012115)
|
Hepatitis |
|
|
|
|
24 / 7739
|
|
19
|
(OMIM)
|
Decreased height |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Square forehead |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Prominent cheeks |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
Broad flat nose |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0001627)
|
Abnormal heart morphology |
|
|
|
|
19 / 7739
|
|
24
|
(OMIM)
|
Hepatitis, chronic, nonspecific |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Iron deposition |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Diarrhea, severe and intractable |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Poorly pigmented hair |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Decreased serum iron |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0030056)
|
Uncombable hair |
|
|
|
|
3 / 7739
|