|
1
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
5
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
6
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
7
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
9
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
10
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0001063)
|
Acrocyanosis |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
14
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
16
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
19
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
20
|
(HPO:0000733)
|
Stereotypy |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
21
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
22
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
23
|
(HPO:0002360)
|
Sleep disturbance |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
24
|
(HPO:0001513)
|
Obesity |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
25
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
26
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
27
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
28
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
29
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
30
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
31
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
32
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
33
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
34
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
35
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
36
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
37
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
38
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
39
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
40
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
41
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
42
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
43
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
44
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
45
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
46
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
47
|
(HPO:0002540)
|
Inability to walk |
|
|
|
|
19 / 7739
|
|
48
|
(HPO:0002883)
|
Hyperventilation |
|
|
|
|
10 / 7739
|
|
49
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
50
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
51
|
(HPO:0012469)
|
Infantile spasms |
|
|
|
|
18 / 7739
|
|
52
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
53
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|