|
1
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0001238)
|
Slender finger |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
10
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
11
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
19
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
20
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
21
|
(HPO:0009553)
|
Abnormality of the hairline |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
22
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
23
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
|
24
|
(HPO:0000187)
|
Broad alveolar ridges |
|
|
|
|
14 / 7739
|
|
25
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
26
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
27
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
28
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
29
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
30
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
31
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
|
32
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
33
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
34
|
(HPO:0001795)
|
Hyperconvex nail |
|
|
|
|
13 / 7739
|
|
35
|
(HPO:0001845)
|
Overlapping toe |
|
|
|
|
18 / 7739
|
|
36
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
37
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
38
|
(HPO:0003121)
|
Limb joint contracture |
|
|
|
|
8 / 7739
|
|
39
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
40
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
41
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
42
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
43
|
(OMIM)
|
Auditory impairment |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
45
|
(OMIM)
|
Tapered digits |
|
|
|
|
4 / 7739
|
|
46
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
47
|
(HPO:0002478)
|
Progressive spastic quadriplegia |
|
|
|
|
7 / 7739
|
|
48
|
(OMIM)
|
Seizures, infantile onset |
|
|
|
|
4 / 7739
|
|
49
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
50
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
51
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|