|
1
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
4
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
9
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
12
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
13
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
14
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
15
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
16
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
17
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
20
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
21
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
22
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
23
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
24
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
25
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
26
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
27
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
28
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
29
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
30
|
(HPO:0000749)
|
Paroxysmal bursts of laughter |
|
|
|
|
8 / 7739
|
|
31
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
32
|
(HPO:0001010)
|
Hypopigmentation of the skin |
|
|
|
|
46 / 7739
|
|
33
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
34
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
35
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
36
|
(HPO:0002136)
|
Broad-based gait |
hallmark [HPO:curators]
|
|
|
|
30 / 7739
|
|
37
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
38
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
39
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
40
|
(HPO:0002312)
|
Clumsiness |
hallmark [HPO:curators]
|
|
|
|
28 / 7739
|
|
41
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
42
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
43
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
44
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
45
|
(HPO:0006979)
|
Sleep-wake cycle disturbance |
|
|
|
|
5 / 7739
|
|
46
|
(HPO:0007240)
|
Progressive gait ataxia |
|
|
|
|
7 / 7739
|
|
47
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
48
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
49
|
(HPO:0200085)
|
Limb tremor |
|
|
|
|
6 / 7739
|
|
50
|
(OMIM)
|
Occipital groove |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Strabismus, most frequently exotropia |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Ocular hypopigmentation |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Refractive error |
|
|
|
|
4 / 7739
|
|
54
|
(OMIM)
|
Excessive drooling |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Feeding difficulties in neonatal period |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Excessive chewing/mouthing behaviors |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Abnormal food-related behaviors |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Ataxia with jerky arm movements |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Clumsiness, unsteadiness |
|
|
|
|
1 / 7739
|
|
60
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
61
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
62
|
(OMIM)
|
Characteristic arm position with wrist and elbow flexion |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Abnormal sleep-wake cycles |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Decreased need for sleep |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Characteristic electroencephalogram (EEG) discharges |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Mild cortical atrophy on CT or MRI |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Easily excitable |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
Attraction to/fascination with water, crinkly items (paper, plastic) |
|
|
|
|
1 / 7739
|
|
69
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
70
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
71
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
72
|
(HPO:0003745)
|
Sporadic |
common [HPO:curators]
|
|
|
|
131 / 7739
|