1
|
(HPO:0000112)
|
Nephropathy |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
2
|
(HPO:0002901)
|
Hypocalcemia |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
3
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
4
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
5
|
(HPO:0000821)
|
Hypothyroidism |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
6
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
7
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
8
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
9
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
10
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
11
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
13
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
14
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
16
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
17
|
(HPO:0000829)
|
Hypoparathyroidism |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
18
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
19
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
20
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
21
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
22
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
23
|
(HPO:0003102)
|
Increased carrying angle |
|
|
|
|
3 / 7739
|
24
|
(HPO:0006521)
|
Pulmonary lymphangiectasia |
|
|
|
|
6 / 7739
|
25
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
26
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
27
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
29
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|