|
1
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
8
|
(HPO:0000717)
|
Autism |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
9
|
(HPO:0000153)
|
Abnormality of the mouth |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
10
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
11
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
15
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
19
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
20
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
22
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
23
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
24
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
25
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
26
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
27
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
28
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
29
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
30
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
31
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
32
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
33
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
34
|
(HPO:0002280)
|
Enlarged cisterna magna |
|
|
|
|
12 / 7739
|
|
35
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
|
36
|
(HPO:0006951)
|
Retrocerebellar cyst |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0007065)
|
Disorganization of the anterior cerebellar vermis |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Upturned philtrum |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Marked infraorbital creases |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Long, tubular nose |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
42
|
(OMIM)
|
Mental retardation, mild, in most carrier females |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
44
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
45
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
46
|
(OMIM)
|
Decreased cerebral volume, especially of the frontal lobes |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
49
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
50
|
(HPO:0400004)
|
Long ear |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
51
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
52
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
53
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
54
|
(HPO:0030260)
|
Microphallus |
|
|
|
|
6 / 7739
|