1
|
(HPO:0011304)
|
Broad thumb |
frequent [HPO:sdoelken]
|
|
|
|
39 / 7739
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
58% [HPO]
|
|
15739154
|
IBIS
|
366 / 7739
|
3
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
70% [HPO]
|
|
15739154
|
IBIS
|
157 / 7739
|
4
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
59 / 7739
|
5
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
6
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
132 / 7739
|
7
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
8
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
9
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
206 / 7739
|
10
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
78% [HPO]
|
|
15739154
|
IBIS
|
119 / 7739
|
11
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
278 / 7739
|
12
|
(HPO:0010055)
|
Broad hallux |
Occasional [Orphanet]
89% [HPO]
|
|
15739154
|
IBIS
|
56 / 7739
|
13
|
(HPO:0010059)
|
Broad hallux phalanx |
frequent [HPO:sdoelken]
|
|
|
|
2 / 7739
|
14
|
(HPO:0001274)
|
Agenesis of corpus callosum |
occasional [HPO]
|
|
|
|
142 / 7739
|
15
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
16
|
(HPO:0000431)
|
Wide nasal bridge |
79% [HPO]
|
|
15739154
|
IBIS
|
290 / 7739
|
17
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
18
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
1245 / 7739
|
19
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
644 / 7739
|
20
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Occasional [Orphanet]
rare [HPO]
|
|
15739154
|
IBIS
|
37 / 7739
|
21
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
22
|
(HPO:0001841)
|
Preaxial foot polydactyly |
Very frequent [Orphanet]
typical [HPO]
|
|
|
|
24 / 7739
|
23
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Frequent [Orphanet]
occasional [HPO]
|
|
|
|
46 / 7739
|
24
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
53% [HPO]
|
|
15739154
|
IBIS
|
298 / 7739
|
25
|
(HPO:0000023)
|
Inguinal hernia |
occasional [HPO]
|
|
|
|
181 / 7739
|
26
|
(HPO:0000028)
|
Cryptorchidism |
occasional [HPO]
|
|
|
|
347 / 7739
|
27
|
(HPO:0000047)
|
Hypospadias |
occasional [HPO]
|
|
|
|
250 / 7739
|
28
|
(HPO:0000243)
|
Trigonocephaly |
|
|
|
|
40 / 7739
|
29
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
30
|
(HPO:0000270)
|
Delayed cranial suture closure |
occasional [HPO]
|
|
|
|
33 / 7739
|
31
|
(HPO:0000494)
|
Downslanted palpebral fissures |
occasional [HPO]
|
|
|
|
328 / 7739
|
32
|
(HPO:0001007)
|
Hirsutism |
occasional [HPO]
|
|
11484201
|
IBIS
|
91 / 7739
|
33
|
(HPO:0001256)
|
Intellectual disability, mild |
occasional [HPO]
|
|
|
|
141 / 7739
|
34
|
(HPO:0001459)
|
1-3 toe syndactyly |
90% [HPO]
|
|
15739154
|
IBIS
|
1 / 7739
|
35
|
(HPO:0001627)
|
Abnormal heart morphology |
occasional [HPO]
|
|
|
|
19 / 7739
|
36
|
(HPO:0001836)
|
Camptodactyly of toe |
occasional [HPO]
|
|
|
|
27 / 7739
|
37
|
(HPO:0003074)
|
Hyperglycemia |
occasional [HPO]
|
|
11484201
|
IBIS
|
37 / 7739
|
38
|
(HPO:0004303)
|
Abnormality of muscle fibers |
occasional [HPO]
|
|
11484201
|
IBIS
|
2 / 7739
|
39
|
(HPO:0006097)
|
3-4 finger syndactyly |
frequent [HPO]
|
|
|
|
7 / 7739
|
40
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
41
|
(HPO:0009473)
|
Joint contracture of the hand |
occasional [HPO]
|
|
|
|
84 / 7739
|
42
|
(HPO:0011330)
|
Metopic synostosis |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
43
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
44
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
45
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
46
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
47
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
48
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
49
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
50
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
51
|
(OMIM)
|
Translocation or deletions involving 7p13 (severe case reports) |
|
|
|
|
1 / 7739
|
52
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
53
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
54
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
55
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
56
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|