|
1
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
6
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
8
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
12
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
13
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
14
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
15
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
16
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0004971)
|
Pulmonary artery hypoplasia |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
19
|
(HPO:0001894)
|
Thrombocytosis |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
|
21
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
22
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
23
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
24
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
26
|
(HPO:0004734)
|
Renal cortical microcysts |
|
|
|
|
10 / 7739
|
|
27
|
(HPO:0006267)
|
Large placenta |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
29
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
30
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
|
31
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
|
32
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
33
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
34
|
(HPO:0011877)
|
Increased mean platelet volume |
|
|
|
|
9 / 7739
|
|
35
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
36
|
(OMIM)
|
Decreased height |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Square forehead |
|
|
|
|
4 / 7739
|
|
38
|
(OMIM)
|
Prominent cheeks |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
40
|
(OMIM)
|
Broad flat nose |
|
|
|
|
4 / 7739
|
|
41
|
(OMIM)
|
Small mouth: Large mouth |
|
|
|
|
1 / 7739
|
|
42
|
(MedDRA:10023129)
|
Jaundice cholestatic |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Progressive liver failure |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Increased iron in hepatocytes |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Liver fibrosis with nodular regeneration, cholestasis, ductular proliferation, and iron deposition |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Islet cell hyperplasia |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Diarrhea, secretory, severe |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Neonatal hemochromatosis |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Defective antibody response |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Defective antigen-specific skin response |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Galactosuria without galactosemia |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Hypermethioninemia, progressive |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Increased serum methionine |
|
|
|
|
2 / 7739
|
|
54
|
(OMIM)
|
Abnormal serum liver enzyme levels |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Elevated ferritin |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Decreased transferrin Increased serum iron |
|
|
|
|
1 / 7739
|