1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
3
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
4
|
(HPO:0000826)
|
Precocious puberty |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
5
|
(HPO:0100000)
|
Early onset of sexual maturation |
|
|
|
|
9 / 7739
|
6
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
7
|
(HPO:0001761)
|
Pes cavus |
Frequent [Orphanet]
|
|
|
|
225 / 7739
|
8
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
10
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
11
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
12
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
13
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
14
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
15
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
16
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
17
|
(HPO:0006889)
|
Intellectual disability, borderline |
|
|
|
|
6 / 7739
|
18
|
(HPO:0100962)
|
Shyness |
|
|
|
|
2 / 7739
|
19
|
(OMIM)
|
Excessive weight |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Fifth toe hypoplasia |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Mental retardation, borderline to severe |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Poor speech articulation |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Subclinical absence seizures |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Diffuse paroxysmal discharges |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Focal paroxysmal discharges |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Continuous spike-wave discharges during sleep |
|
|
|
|
1 / 7739
|
27
|
(MedDRA:10065954)
|
Stubbornness |
|
|
|
|
5 / 7739
|
28
|
(OMIM)
|
Autistic-like features |
|
|
|
|
1 / 7739
|
29
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
31
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
32
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|