1
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
2
|
(HPO:0004760)
|
Congenital septal defect |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
3
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
5
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
6
|
(HPO:0000185)
|
Cleft soft palate |
|
|
|
|
18 / 7739
|
7
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
8
|
(HPO:0011819)
|
Submucous cleft soft palate |
|
|
|
|
12 / 7739
|
9
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
10
|
(HPO:0002553)
|
Highly arched eyebrow |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
11
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
12
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
13
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
14
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
15
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
16
|
(HPO:0002967)
|
Cubitus valgus |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
17
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
19
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
20
|
(HPO:0000482)
|
Microcornea |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
21
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
22
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
23
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
24
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
25
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
26
|
(HPO:0006315)
|
Single median maxillary incisor |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
27
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
28
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
29
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
30
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
87 / 7739
|
31
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
32
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
33
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
34
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
35
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
36
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
37
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
38
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
39
|
(HPO:0001836)
|
Camptodactyly of toe |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
40
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
41
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
42
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
43
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
44
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
45
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
46
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
47
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
48
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
49
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
50
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
51
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
52
|
(HPO:0001153)
|
Septate vagina |
|
|
|
|
6 / 7739
|
53
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
54
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
55
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
56
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
57
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
58
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
59
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
60
|
(HPO:0006335)
|
Persistence of primary teeth |
|
|
|
|
12 / 7739
|
61
|
(HPO:0007733)
|
Laterally curved eyebrow |
|
|
|
|
2 / 7739
|
62
|
(HPO:0007968)
|
Remnants of the hyaloid vascular system |
|
|
|
|
5 / 7739
|
63
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
64
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
65
|
(HPO:0011069)
|
Increased number of teeth |
|
|
|
|
39 / 7739
|
66
|
(HPO:0011090)
|
Fused teeth |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Long narrow face |
|
|
|
|
11 / 7739
|
68
|
(OMIM)
|
Canine radiculomegaly |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Delayed dentition |
|
|
|
|
5 / 7739
|
70
|
(OMIM)
|
Root dilacerations (extension) |
|
|
|
|
1 / 7739
|
71
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
72
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
73
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
74
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
75
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
76
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
77
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
78
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
79
|
(HPO:0000047)
|
Hypospadias |
rare [HPO:skoehler]
|
|
|
|
250 / 7739
|
80
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
81
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
82
|
(HPO:0000667)
|
Phthisis bulbi |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
83
|
(HPO:0000821)
|
Hypothyroidism |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
84
|
(HPO:0000846)
|
Adrenal insufficiency |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
85
|
(HPO:0001188)
|
Hand clenching |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
86
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
87
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
88
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
89
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
90
|
(HPO:0001537)
|
Umbilical hernia |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
91
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
92
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
93
|
(HPO:0001651)
|
Dextrocardia |
rare [HPO:skoehler]
|
|
|
|
38 / 7739
|
94
|
(HPO:0001719)
|
Double outlet right ventricle |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
95
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
96
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
97
|
(HPO:0002313)
|
Spastic paraparesis |
rare [HPO:skoehler]
|
|
|
|
33 / 7739
|
98
|
(HPO:0004325)
|
Decreased body weight |
rare [HPO:skoehler]
|
|
|
|
492 / 7739
|
99
|
(HPO:0010722)
|
Asymmetry of the ears |
|
|
|
|
3 / 7739
|