|
1
|
(HPO:0000293)
|
Full cheeks |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0001012)
|
Multiple lipomas |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0002149)
|
Hyperuricemia |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
8
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
11
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
12
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
15
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
|
|
37 / 7739
|
|
16
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
|
|
30 / 7739
|
|
17
|
(HPO:0000295)
|
Doll-like facies |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0000660)
|
Lipemia retinalis |
|
|
|
|
7 / 7739
|
|
19
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
|
20
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
21
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
22
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
23
|
(HPO:0000991)
|
Xanthomatosis |
|
|
|
|
16 / 7739
|
|
24
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
|
25
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
26
|
(HPO:0001733)
|
Pancreatitis |
|
|
|
|
46 / 7739
|
|
27
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
28
|
(HPO:0001997)
|
Gout |
|
|
|
|
18 / 7739
|
|
29
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
30
|
(HPO:0002254)
|
Intermittent diarrhea |
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
32
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
|
|
37 / 7739
|
|
33
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
34
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
35
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
|
|
21 / 7739
|