|
1
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
4
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
|
5
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0000627)
|
Posterior embryotoxon |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
14
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
15
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
16
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
17
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
18
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
19
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
20
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
21
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
22
|
(HPO:0000540)
|
Hypermetropia |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
23
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
24
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
25
|
(HPO:0100716)
|
Self-injurious behavior |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
26
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
27
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
28
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
29
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
30
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
31
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
32
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
|
33
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
34
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
35
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
36
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
37
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
38
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
39
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
40
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
41
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
42
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
43
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
44
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
45
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
46
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
47
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
48
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
49
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
50
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
51
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
52
|
(HPO:0001492)
|
Axenfeld anomaly |
|
|
|
|
6 / 7739
|
|
53
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
54
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
55
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
|
56
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
57
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
58
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
|
59
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
60
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
61
|
(OMIM)
|
Anterior eye defects |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Anterior chamber dysgenesis |
|
|
|
|
2 / 7739
|
|
63
|
(OMIM)
|
Refractive error |
|
|
|
|
4 / 7739
|
|
64
|
(OMIM)
|
Overcrowded teeth |
|
|
|
|
3 / 7739
|
|
65
|
(OMIM)
|
Decreased enamel |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Valvular defects |
|
|
|
|
3 / 7739
|
|
67
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
68
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
69
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
70
|
(HPO:0011484)
|
Posterior synechiae of the anterior chamber |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
71
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
72
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
73
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
74
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
75
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
76
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
77
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
78
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
79
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
80
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|