|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
4
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
7
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
8
|
(HPO:0000297)
|
Facial hypotonia |
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
10
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
11
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
12
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
13
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
16
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
17
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
18
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
19
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
20
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
21
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
22
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
23
|
(HPO:0002191)
|
Progressive spasticity |
|
|
|
|
12 / 7739
|
|
24
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
25
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
26
|
(HPO:0003781)
|
Excessive salivation |
|
|
|
|
15 / 7739
|
|
27
|
(HPO:0003763)
|
Bruxism |
|
|
|
|
7 / 7739
|
|
28
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
30
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
31
|
(OMIM)
|
No growth retardation |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Limited facial expression |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
34
|
(OMIM)
|
Abnormal breathing pattern |
|
|
|
|
8 / 7739
|
|
35
|
(OMIM)
|
Asymmetric skull |
|
|
|
|
6 / 7739
|
|
36
|
(OMIM)
|
Severe psychomotor retardation from birth |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Hypotonia, infantile |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Loss of any acquired abilities in early childhood |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Spasticity, progressive, develops in childhood |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
41
|
(OMIM)
|
Stereotypic hand movements |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Loss of purposeful hand movements |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
44
|
(MedDRA:10010219)
|
Compulsions |
|
|
|
|
3 / 7739
|
|
45
|
(MedDRA:10020400)
|
Hostility |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Psychoticism |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Female carriers show markedly skewed X inactivation |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
49
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
50
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
51
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|