|
1
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
2
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
3
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
6
|
(HPO:0000053)
|
Macroorchidism |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
13
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
14
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
15
|
(HPO:0000297)
|
Facial hypotonia |
|
|
|
|
8 / 7739
|
|
16
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
17
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
18
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
19
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
20
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
21
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
22
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
23
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
24
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
25
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
26
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
27
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
28
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
29
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
|
30
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
31
|
(HPO:0003781)
|
Excessive salivation |
|
|
|
|
15 / 7739
|
|
32
|
(HPO:0002362)
|
Shuffling gait |
|
|
|
|
13 / 7739
|
|
33
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
34
|
(HPO:0003763)
|
Bruxism |
|
|
|
|
7 / 7739
|
|
35
|
(HPO:0002050)
|
Macroorchidism, postpubertal |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Distal atrophy of the legs |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Mood instability |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Schizophrenic symptoms (reported in 1 patient) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
40
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [Orphanet]
|
|
|
|
230 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
43
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|