1
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
2
|
(HPO:0000161)
|
Median cleft lip |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
3
|
(HPO:0000187)
|
Broad alveolar ridges |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
4
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
7
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
8
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
9
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
10
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
11
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
12
|
(HPO:0000482)
|
Microcornea |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
13
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
14
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
15
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
16
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
17
|
(HPO:0000540)
|
Hypermetropia |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
18
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
19
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
20
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
21
|
(HPO:0000601)
|
Hypotelorism |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
22
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
23
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
24
|
(HPO:0000679)
|
Taurodontia |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
25
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
26
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
27
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
28
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
29
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
30
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
31
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
32
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
33
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
34
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
35
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
36
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
37
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
38
|
(HPO:0001943)
|
Hypoglycemia |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
39
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
40
|
(HPO:0002213)
|
Fine hair |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
41
|
(HPO:0002217)
|
Slow-growing hair |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
42
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
43
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
44
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
45
|
(HPO:0003067)
|
Madelung deformity |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
46
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
47
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
48
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
49
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
50
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
51
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
52
|
(HPO:0006323)
|
Premature loss of primary teeth |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
53
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
54
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
55
|
(HPO:0000377)
|
Abnormality of the pinna |
rare [HPO:skoehler]
|
|
|
|
111 / 7739
|
56
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
57
|
(HPO:0010109)
|
Short hallux |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
58
|
(HPO:0010761)
|
Broad columella |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
59
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
226 / 7739
|
60
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
61
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
62
|
(HPO:0010719)
|
Abnormality of hair texture |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
63
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
64
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
65
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
66
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
67
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
68
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
69
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
70
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
71
|
(HPO:0009933)
|
Narrow naris |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
72
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
73
|
(HPO:0002299)
|
Brittle hair |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
74
|
(HPO:0100774)
|
Hyperostosis |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
75
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
76
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
77
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
78
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
79
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
80
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
81
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
82
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
83
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
84
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
85
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
86
|
(HPO:0000011)
|
Neurogenic bladder |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
87
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
88
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
89
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
90
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
91
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
92
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
93
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
94
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
95
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
96
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
97
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
98
|
(HPO:0002273)
|
Tetraparesis |
|
|
|
|
15 / 7739
|
99
|
(HPO:0002385)
|
Paraparesis |
|
|
|
|
12 / 7739
|
100
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
101
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
102
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
103
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
104
|
(HPO:0004495)
|
Thin anteverted nares |
|
|
|
|
2 / 7739
|
105
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
106
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
107
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
|
|
21 / 7739
|
108
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
109
|
(HPO:0008442)
|
Vertebral hyperostosis |
|
|
|
|
3 / 7739
|
110
|
(HPO:0009183)
|
Joint contracture of the 5th finger |
|
|
|
|
8 / 7739
|
111
|
(HPO:0009779)
|
3-4 toe syndactyly |
|
|
|
|
4 / 7739
|
112
|
(HPO:0010705)
|
4-5 finger syndactyly |
|
|
|
|
3 / 7739
|
113
|
(HPO:0011359)
|
Dry hair |
|
|
|
|
16 / 7739
|
114
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
115
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|