1
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
2
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
3
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
4
|
(HPO:0100555)
|
Asymmetric growth |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
5
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
6
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
7
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
8
|
(HPO:0100545)
|
Arterial stenosis |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
9
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
10
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
13
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
14
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
15
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
16
|
(HPO:0000541)
|
Retinal detachment |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
17
|
(HPO:0100814)
|
Blue nevus |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
18
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
19
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
20
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
21
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
22
|
(HPO:0000965)
|
Cutis marmorata |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
23
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
24
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
25
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
26
|
(HPO:0000555)
|
Leukocoria |
|
|
|
|
5 / 7739
|
27
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
28
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
29
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
30
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
31
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
32
|
(HPO:0006385)
|
Short lower limbs |
|
|
|
|
8 / 7739
|
33
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
34
|
(OMIM)
|
Thin leg |
|
|
|
|
2 / 7739
|
35
|
(OMIM)
|
Tendinitis, stenosing |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Congenital retinal detachment |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Superficial ulceration |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Phlebectasia |
|
|
|
|
1 / 7739
|
39
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
40
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
42
|
(HPO:0040064)
|
Abnormality of limbs |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|