1
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
2
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
3
|
(HPO:0001182)
|
Tapered finger |
Frequent [Orphanet]
|
|
|
|
93 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
8
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
9
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
10
|
(HPO:0002104)
|
Apnea |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
11
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
12
|
(HPO:0011262)
|
Crimped helix |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
13
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
14
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
15
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
16
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
17
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
18
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
19
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
20
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
21
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
22
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
23
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
24
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
25
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
26
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
27
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
28
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
29
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
30
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
31
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
32
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
33
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
34
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
35
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
36
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
37
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
38
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
39
|
(HPO:0001786)
|
Narrow foot |
|
|
|
|
11 / 7739
|
40
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
41
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
42
|
(HPO:0002883)
|
Hyperventilation |
|
|
|
|
10 / 7739
|
43
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
44
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
45
|
(OMIM)
|
Square forehead |
|
|
|
|
4 / 7739
|
46
|
(OMIM)
|
Protruding lower face |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
High cheekbones |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Fleshy ears |
|
|
|
|
3 / 7739
|
49
|
(OMIM)
|
Beaked nasal bridge |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Downturned, pointed nasal tip |
|
|
|
|
1 / 7739
|
51
|
(HPO:0000454)
|
Flared nostrils |
|
|
|
|
11 / 7739
|
52
|
(OMIM)
|
Wide open mouth |
|
|
|
|
1 / 7739
|
53
|
(HPO:0002263)
|
Exaggerated cupid's bow |
|
|
|
|
15 / 7739
|
54
|
(OMIM)
|
Thick, fleshy lips |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Abnormal breathing pattern |
|
|
|
|
8 / 7739
|
56
|
(OMIM)
|
Intermittent breathing |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Small, slender palms |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Clubbing of the fingers |
|
|
|
|
2 / 7739
|
59
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
60
|
(OMIM)
|
Fetal pads |
|
|
|
|
1 / 7739
|
61
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
62
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
63
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
64
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
65
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
66
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
67
|
(OMIM)
|
Poor or absent speech development |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Limited walking abilities |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Unstable, ataxic gait |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Bulging of the caudate nuclei |
|
|
|
|
1 / 7739
|
71
|
(OMIM)
|
Ventricular asymmetry |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Agenesis or hypoplasia of the corpus callosum |
|
|
|
|
1 / 7739
|
73
|
(OMIM)
|
Atrophy of the frontal and parietal cortex |
|
|
|
|
1 / 7739
|
74
|
(OMIM)
|
Happy personality |
|
|
|
|
1 / 7739
|
75
|
(OMIM)
|
Sterotypical movements |
|
|
|
|
1 / 7739
|
76
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
77
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
78
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
79
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
80
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
81
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
82
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
83
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
84
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
85
|
(HPO:0004879)
|
Intermittent hyperventilation |
|
|
|
|
2 / 7739
|
86
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|