|
1
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0000100)
|
Nephrotic syndrome |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
5
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
6
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
7
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0002592)
|
Gastric ulcer |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0005263)
|
Gastritis |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
11
|
(HPO:0000049)
|
Shawl scrotum |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0004447)
|
Poikilocytosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
15
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
16
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
17
|
(HPO:0000789)
|
Infertility |
|
|
|
|
74 / 7739
|
|
18
|
(HPO:0001648)
|
Cor pulmonale |
|
|
|
|
16 / 7739
|
|
19
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
|
|
|
|
23 / 7739
|
|
20
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
|
|
28 / 7739
|
|
21
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
22
|
(HPO:0002097)
|
Emphysema |
|
|
|
|
40 / 7739
|
|
23
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
24
|
(HPO:0002613)
|
Biliary cirrhosis |
|
|
|
|
11 / 7739
|
|
25
|
(HPO:0004401)
|
Meconium ileus |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0005230)
|
Biliary tract obstruction |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
28
|
(HPO:0006538)
|
Recurrent bronchopulmonary infections |
|
|
|
|
6 / 7739
|
|
29
|
(HPO:0008327)
|
Microscopic nephrocalcinosis |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0009748)
|
Large earlobe |
|
|
|
|
27 / 7739
|
|
31
|
(HPO:0100507)
|
Folate deficiency |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Small, deep-set eyes |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Micrognathia, mild |
|
|
|
|
8 / 7739
|
|
34
|
(OMIM)
|
Helicobacter pylori gastritis |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Glanular hypospadias |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
High sweat electrolyte |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
38
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
41
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|