|
1
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000046)
|
Scrotal hypoplasia |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
9
|
(HPO:0001305)
|
Dandy-Walker malformation |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
10
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
14
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
15
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
16
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
17
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
20
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
21
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
22
|
(HPO:0000930)
|
Elevated imprint of the transverse sinuses |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0000931)
|
Thinning and bulging of the posterior fossa bones |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0000933)
|
Posterior fossa cyst at the fourth ventricle |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0001821)
|
Broad nail |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
28
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
29
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
|
30
|
(HPO:0002951)
|
Partial absence of cerebellar vermis |
|
|
|
|
3 / 7739
|
|
31
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
32
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
33
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
34
|
(HPO:0011039)
|
Abnormality of the helix |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
35
|
(OMIM)
|
Extreme myopia |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Partial or complete absence of cerebellar vermis |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Bulging occiput |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Short and broad fingernails |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Brachytelephalangy |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
41
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
42
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
43
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
44
|
(HPO:0100037)
|
Abnormality of the scalp hair |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
45
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|