|
1
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0000161)
|
Median cleft lip |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0010285)
|
Oral synechia |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
9
|
(HPO:0000180)
|
Lobulated tongue |
|
|
|
|
8 / 7739
|
|
10
|
(HPO:0000193)
|
Bifid uvula |
rare [HPO:skoehler]
|
|
|
|
66 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
14
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
|
|
37 / 7739
|
|
15
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
16
|
(HPO:0002251)
|
Aganglionic megacolon |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
19
|
(OMIM)
|
Midline lip defect, subtle (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Duplicated frenulum (in some patients) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Tetralogy of Fallot (rare) Ventricular septal defect (rare) |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
23
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
|
24
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
25
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|