|
1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
5
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
7
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
8
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
10
|
(HPO:0005101)
|
High-frequency hearing impairment |
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
12
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
13
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
|
|
278 / 7739
|
|
14
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
15
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
16
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
17
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
18
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
22
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
23
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
24
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
25
|
(HPO:0001305)
|
Dandy-Walker malformation |
rare [HPO:skoehler]
|
|
|
|
79 / 7739
|
|
26
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
27
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
28
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
29
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
30
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
|
|
|
|
13 / 7739
|
|
31
|
(HPO:0002514)
|
Cerebral calcification |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
32
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
33
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
34
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
35
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
|
|
43 / 7739
|