|
1
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
2
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
5
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0000280)
|
Coarse facial features |
Occasional [Orphanet]
|
|
|
|
189 / 7739
|
|
7
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
10
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
11
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
16
|
(HPO:0000826)
|
Precocious puberty |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
17
|
(HPO:0001231)
|
Abnormality of the fingernails |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
20
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
|
21
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
|
22
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
23
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
24
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
25
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
26
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
27
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
28
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
29
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
30
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
31
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
32
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
33
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
34
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
35
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
36
|
(HPO:0004760)
|
Congenital septal defect |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
37
|
(HPO:0000695)
|
Natal tooth |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
38
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
39
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
40
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
41
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
42
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
43
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
44
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
45
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
46
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
47
|
(HPO:0009792)
|
Teratoma |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
49
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
50
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
51
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
|
52
|
(HPO:0000388)
|
Otitis media |
|
|
|
|
28 / 7739
|
|
53
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
54
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
55
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
56
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
57
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
58
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
59
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
|
60
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
61
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
62
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
63
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
64
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
65
|
(HPO:0001952)
|
Abnormal glucose tolerance |
|
|
|
|
9 / 7739
|
|
66
|
(HPO:0002280)
|
Enlarged cisterna magna |
|
|
|
|
12 / 7739
|
|
67
|
(HPO:0002370)
|
Poor coordination |
|
|
|
|
15 / 7739
|
|
68
|
(HPO:0002389)
|
Cavum septum pellucidum |
|
|
|
|
13 / 7739
|
|
69
|
(HPO:0002474)
|
Expressive language delay |
|
|
|
|
8 / 7739
|
|
70
|
(HPO:0002667)
|
Nephroblastoma |
|
|
|
|
30 / 7739
|
|
71
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
72
|
(HPO:0006288)
|
Advanced eruption of teeth |
|
|
|
|
5 / 7739
|
|
73
|
(HPO:0009890)
|
High anterior hairline |
|
|
|
|
10 / 7739
|