|
1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
occasional [HPO]
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
4
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
rare [HPO]
|
|
|
|
278 / 7739
|
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
typical [HPO]
|
|
|
|
164 / 7739
|
|
7
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
244 / 7739
|
|
8
|
(HPO:0002777)
|
Tracheal stenosis |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
9
|
(HPO:0000218)
|
High palate |
occasional [HPO]
|
|
|
|
356 / 7739
|
|
10
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0002132)
|
Porencephaly |
Occasional [Orphanet]
rare [HPO]
|
|
|
|
18 / 7739
|
|
14
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
frequent [HPO]
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
typical [HPO]
|
|
|
|
156 / 7739
|
|
16
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
common [HPO]
|
|
|
|
288 / 7739
|
|
17
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
18
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
119 / 7739
|
|
19
|
(HPO:0000161)
|
Median cleft lip |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
27 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
typical [HPO]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0010297)
|
Bifid tongue |
Very frequent [Orphanet]
typical [HPO]
|
|
|
|
17 / 7739
|
|
23
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
24
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
25
|
(HPO:0000455)
|
Broad nasal tip |
typical [HPO]
|
|
|
|
67 / 7739
|
|
26
|
(HPO:0000456)
|
Bifid nasal tip |
typical [HPO]
|
|
|
|
11 / 7739
|
|
27
|
(HPO:0000078)
|
Abnormality of the genital system |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
28
|
(HPO:0000180)
|
Lobulated tongue |
typical [HPO]
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0000191)
|
Accessory oral frenulum |
typical [HPO]
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0000199)
|
Tongue nodules |
typical [HPO]
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0000272)
|
Malar flattening |
typical [HPO]
|
|
|
|
277 / 7739
|
|
32
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
33
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
typical [HPO]
|
|
|
|
129 / 7739
|
|
34
|
(HPO:0000347)
|
Micrognathia |
typical [HPO]
|
|
|
|
426 / 7739
|
|
35
|
(HPO:0001159)
|
Syndactyly |
occasional [HPO]
|
|
|
|
140 / 7739
|
|
36
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
37
|
(HPO:0001830)
|
Postaxial foot polydactyly |
frequent [HPO]
|
|
|
|
37 / 7739
|
|
38
|
(HPO:0001841)
|
Preaxial foot polydactyly |
common [HPO]
|
|
|
|
24 / 7739
|
|
39
|
(HPO:0002645)
|
Wormian bones |
occasional [HPO]
|
|
|
|
65 / 7739
|
|
40
|
(HPO:0003015)
|
Flared metaphysis |
typical [HPO]
|
|
|
|
44 / 7739
|
|
41
|
(HPO:0003025)
|
Metaphyseal irregularity |
typical [HPO]
|
|
|
|
42 / 7739
|
|
42
|
(HPO:0005280)
|
Depressed nasal bridge |
typical [HPO]
|
|
|
|
381 / 7739
|
|
43
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
44
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
45
|
(HPO:0006289)
|
Agenesis of central incisor |
occasional [HPO]
|
|
|
|
3 / 7739
|
|
46
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
47
|
(HPO:0010101)
|
Partial duplication of the phalanges of the hallux |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Hypertrophied frenula |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Midline cleft of tongue |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Zygomatic arch hypoplasia |
|
|
|
|
2 / 7739
|
|
51
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
52
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
53
|
(OMIM)
|
Bilateral preaxial polydactyly |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Broad cuboid first metatarsal |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Extra cuneiform bone |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
57
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
58
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
59
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
60
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
61
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
62
|
(HPO:0001156)
|
Brachydactyly syndrome |
common [HPO]
|
|
|
|
180 / 7739
|