1
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000298)
|
Mask-like facies |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
4
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
7
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
9
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
10
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
11
|
(HPO:0000592)
|
Blue sclerae |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
12
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
13
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
14
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
17
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
18
|
(HPO:0001513)
|
Obesity |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
19
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
20
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
21
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
22
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
23
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
24
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
25
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
26
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
28
|
(HPO:0005338)
|
Sparse lateral eyebrow |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
29
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
30
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
31
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
32
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
33
|
(HPO:0100267)
|
Lip pit |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
34
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
35
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
36
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
37
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
38
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
39
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
40
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
41
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
42
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
43
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
44
|
(HPO:0200055)
|
Small hand |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
45
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
46
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
47
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
48
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
49
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
50
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Frequent [Orphanet]
|
|
|
|
57 / 7739
|
51
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
52
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
53
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
54
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
55
|
(HPO:0000492)
|
Abnormality of the eyelid |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
56
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
57
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
58
|
(HPO:0000074)
|
Ureteropelvic junction obstruction |
|
|
|
|
15 / 7739
|
59
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
60
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
61
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
62
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
63
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
64
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
65
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
66
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
67
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
68
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
69
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
70
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
71
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
72
|
(HPO:0001212)
|
Prominent fingertip pads |
|
|
|
|
12 / 7739
|
73
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
74
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
75
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
76
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
77
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
78
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
79
|
(HPO:0001973)
|
Autoimmune thrombocytopenia |
|
|
|
|
18 / 7739
|
80
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
81
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
82
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
83
|
(HPO:0002100)
|
Recurrent aspiration pneumonia |
|
|
|
|
6 / 7739
|
84
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
85
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
86
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
87
|
(HPO:0004736)
|
Crossed fused renal ectopia |
|
|
|
|
5 / 7739
|
88
|
(HPO:0005218)
|
Anoperineal fistula |
|
|
|
|
2 / 7739
|
89
|
(HPO:0007655)
|
Eversion of lateral third of lower eyelids |
|
|
|
|
3 / 7739
|
90
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
91
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
92
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
93
|
(HPO:0010314)
|
Premature thelarche |
|
|
|
|
4 / 7739
|