|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000187)
|
Broad alveolar ridges |
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
7
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
8
|
(HPO:0000446)
|
Narrow nasal bridge |
|
|
|
|
29 / 7739
|
|
9
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
13
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
15
|
(HPO:0000679)
|
Taurodontia |
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
19
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
20
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
21
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
|
22
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
23
|
(HPO:0002273)
|
Tetraparesis |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0002385)
|
Paraparesis |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
26
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
27
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
28
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
|
29
|
(HPO:0004495)
|
Thin anteverted nares |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
31
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
32
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
|
|
21 / 7739
|
|
33
|
(HPO:0008442)
|
Vertebral hyperostosis |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0009183)
|
Joint contracture of the 5th finger |
|
|
|
|
8 / 7739
|
|
35
|
(HPO:0009779)
|
3-4 toe syndactyly |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Iris anomalies |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Small nares |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Skull hyperostosis |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Broad tubular bones |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Syndactyly of 4th - 5th fingers |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
42
|
(OMIM)
|
Diffuse yellow-orange non-epidermolytic hyperkeratosis on palms and soles (palmoplantar keratoderma) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Fine, dry hair |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Sparse, slow-growing hair |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Lymphedema of lower limbs (in some patients) |
|
|
|
|
1 / 7739
|