1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
8
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
9
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
12
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
13
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
14
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
15
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
16
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
17
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
18
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
19
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
20
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
21
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
22
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
23
|
(HPO:0000453)
|
Choanal atresia |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
24
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
25
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
26
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
27
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
28
|
(HPO:0001601)
|
Laryngomalacia |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
29
|
(HPO:0010285)
|
Oral synechia |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
30
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
31
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
32
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
33
|
(HPO:0000161)
|
Median cleft lip |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
34
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
35
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
36
|
(HPO:0000199)
|
Tongue nodules |
|
|
|
|
5 / 7739
|
37
|
(HPO:0011802)
|
Hamartoma of tongue |
|
|
22883145
|
IBIS
|
4 / 7739
|
38
|
(HPO:0000322)
|
Short philtrum |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
39
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
40
|
(HPO:0000180)
|
Lobulated tongue |
|
|
|
|
8 / 7739
|
41
|
(HPO:0000191)
|
Accessory oral frenulum |
|
|
|
|
6 / 7739
|
42
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
43
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
44
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
45
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
46
|
(HPO:0001800)
|
Hypoplastic toenails |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
47
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
48
|
(HPO:0002132)
|
Porencephaly |
|
|
|
|
18 / 7739
|
49
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
50
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
51
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
52
|
(HPO:0011039)
|
Abnormality of the helix |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
53
|
(OMIM)
|
Oral frenula |
|
|
|
|
3 / 7739
|
54
|
(OMIM)
|
Preaxial and/or postaxial polydactyly |
|
|
|
|
1 / 7739
|
55
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
56
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
57
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
58
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
59
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
60
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
61
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
62
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
63
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
64
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
65
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
66
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
67
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
68
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
69
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|