1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
2
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
3
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
6
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
7
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
8
|
(HPO:0000340)
|
Sloping forehead |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
9
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
10
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
11
|
(HPO:0000483)
|
Astigmatism |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
12
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
13
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
14
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
15
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
16
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
17
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
18
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
19
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
20
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
21
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
22
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
23
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
24
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
25
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
26
|
(HPO:0001562)
|
Oligohydramnios |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
27
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
28
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
29
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
30
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
31
|
(HPO:0001763)
|
Pes planus |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
32
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
33
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
34
|
(HPO:0001882)
|
Leukopenia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
35
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
36
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
37
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
38
|
(HPO:0002245)
|
Meckel diverticulum |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
39
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
40
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
41
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
42
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
43
|
(HPO:0002823)
|
Abnormality of the femur |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
44
|
(HPO:0002863)
|
Myelodysplasia |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
45
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
46
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
47
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
48
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
49
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
50
|
(HPO:0005344)
|
Abnormality of the carotid arteries |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
51
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
52
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
53
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
54
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
55
|
(HPO:0000356)
|
Abnormality of the outer ear |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
56
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
57
|
(HPO:0010293)
|
Aplasia/Hypoplasia of the uvula |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
58
|
(HPO:0100026)
|
Arteriovenous malformation |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
59
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
60
|
(HPO:0100587)
|
Abnormality of the preputium |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
61
|
(HPO:0100760)
|
Clubbing of toes |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
62
|
(HPO:0100867)
|
Duodenal stenosis |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
63
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
64
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
65
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
66
|
(HPO:0001760)
|
Abnormality of the foot |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
67
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
68
|
(HPO:0001876)
|
Pancytopenia |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
69
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
70
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
71
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
72
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
73
|
(HPO:0002664)
|
Neoplasm |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
74
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
75
|
(HPO:0001080)
|
Biliary tract abnormality |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
76
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
77
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
78
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
79
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
80
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
81
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
82
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
83
|
(HPO:0001167)
|
Abnormality of finger |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
84
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
85
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
86
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
87
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
88
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
89
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
90
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
91
|
(HPO:0008669)
|
Abnormal spermatogenesis |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
92
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
93
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
94
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
95
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
96
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
97
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
98
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
99
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
100
|
(HPO:0000081)
|
Duplicated collecting system |
|
|
|
|
16 / 7739
|
101
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
102
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
103
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
104
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
105
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
106
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
107
|
(HPO:0001017)
|
Anemic pallor |
|
|
|
|
5 / 7739
|
108
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
109
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
110
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
111
|
(HPO:0001896)
|
Reticulocytopenia |
|
|
|
|
12 / 7739
|
112
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
113
|
(HPO:0003213)
|
Deficient excision of UV-induced pyrimidine dimers in DNA |
|
|
|
|
5 / 7739
|
114
|
(HPO:0003214)
|
Prolonged G2 phase of cell cycle |
|
|
|
|
5 / 7739
|
115
|
(HPO:0003221)
|
Chromosomal breakage induced by crosslinking agents |
|
|
|
|
8 / 7739
|
116
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
117
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
118
|
(HPO:0009943)
|
Complete duplication of thumb phalanx |
|
|
|
|
8 / 7739
|
119
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|