1
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
2
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
3
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
4
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
5
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
6
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
8
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
9
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
10
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
11
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
12
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
14
|
(HPO:0000028)
|
Cryptorchidism |
hallmark [HPO:skoehler]
|
|
|
|
347 / 7739
|
15
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
16
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
17
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
18
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
19
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
20
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
21
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
22
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
23
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
24
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
25
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
26
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
27
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
28
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
29
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
30
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
31
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
32
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
33
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
34
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
35
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
36
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
37
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
38
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
|
|
|
|
15 / 7739
|
39
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
40
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
41
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
42
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
43
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
44
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
45
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
46
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
47
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
48
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
49
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
50
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
51
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
52
|
(HPO:0001540)
|
Diastasis recti |
|
|
|
|
23 / 7739
|
53
|
(HPO:0001581)
|
Recurrent skin infections |
|
|
|
|
9 / 7739
|
54
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
55
|
(HPO:0002036)
|
Hiatus hernia |
|
|
|
|
24 / 7739
|
56
|
(HPO:0002107)
|
Pneumothorax |
|
|
|
|
7 / 7739
|
57
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
58
|
(HPO:0002246)
|
Abnormality of the duodenum |
|
|
|
|
1 / 7739
|
59
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
60
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
61
|
(HPO:0002761)
|
Generalized joint laxity |
|
|
|
|
8 / 7739
|
62
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
63
|
(HPO:0004425)
|
Flat forehead |
|
|
|
|
6 / 7739
|
64
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
65
|
(HPO:0100699)
|
Scarring |
|
|
|
|
9 / 7739
|