1
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
2
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
3
|
(HPO:0000341)
|
Narrow forehead |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
7
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
9
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
10
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
11
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
12
|
(HPO:0000657)
|
Oculomotor apraxia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
13
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
14
|
(HPO:0001161)
|
Hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
15
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
18
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
19
|
(HPO:0001337)
|
Tremor |
Occasional [Orphanet]
|
|
|
|
200 / 7739
|
20
|
(HPO:0001829)
|
Foot polydactyly |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
21
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
22
|
(HPO:0002104)
|
Apnea |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
23
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
24
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
25
|
(HPO:0002553)
|
Highly arched eyebrow |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
26
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
27
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
28
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
29
|
(HPO:0010297)
|
Bifid tongue |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
30
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
31
|
(HPO:0010285)
|
Oral synechia |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
32
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
33
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
34
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
35
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
36
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
38
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
40
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
41
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
42
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
43
|
(HPO:0000191)
|
Accessory oral frenulum |
|
|
|
|
6 / 7739
|
44
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
45
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
46
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
47
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
48
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
49
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
50
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
51
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
52
|
(HPO:0001177)
|
Preaxial hand polydactyly |
|
|
|
|
59 / 7739
|
53
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
54
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
55
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
56
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
57
|
(HPO:0001841)
|
Preaxial foot polydactyly |
|
|
|
|
24 / 7739
|
58
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
59
|
(HPO:0002444)
|
Hypothalamic hamartoma |
|
|
|
|
5 / 7739
|
60
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
61
|
(HPO:0006145)
|
Central Y-shaped metacarpal |
|
|
|
|
2 / 7739
|
62
|
(HPO:0006159)
|
Mesoaxial hand polydactyly |
|
|
|
|
5 / 7739
|
63
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
64
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
65
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|