1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
2
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
3
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
4
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
5
|
(HPO:0100579)
|
Mucosal telangiectasiae |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
6
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
7
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
8
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
11
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
12
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
13
|
(HPO:0000093)
|
Proteinuria |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
14
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
15
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
16
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
17
|
(HPO:0001029)
|
Poikiloderma |
|
|
|
|
23 / 7739
|
18
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
19
|
(HPO:0002138)
|
Subarachnoid hemorrhage |
|
|
|
|
9 / 7739
|
20
|
(HPO:0002243)
|
Protein-losing enteropathy |
|
|
|
|
8 / 7739
|
21
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
22
|
(HPO:0002617)
|
Aneurysm |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
23
|
(HPO:0007777)
|
Chorioretinal scar |
|
|
|
|
1 / 7739
|
24
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
25
|
(OMIM)
|
Peripheral retinal ischemic changes |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
EM shows concentric layers of basement membrane-like deposits in intestinal capillaries, and subepithelial and mesangial spaces of the kidneys |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Progressive vascular hyalinosis |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Sylvian aneurysm |
|
|
|
|
1 / 7739
|
29
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|