1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
2
|
(HPO:0000733)
|
Stereotypy |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
3
|
(HPO:0001669)
|
Transposition of the great arteries |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
7
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
8
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
9
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
12
|
(HPO:0000600)
|
Abnormality of the pharynx |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
14
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
15
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
16
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
17
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
18
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
19
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
20
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
21
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
22
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
23
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
24
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
25
|
(HPO:0011265)
|
Cleft earlobe |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
26
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
27
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
28
|
(HPO:0004383)
|
Hypoplastic left heart |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
29
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
30
|
(HPO:0000795)
|
Abnormality of the urethra |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
31
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
32
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
33
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
34
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
35
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
36
|
(HPO:0000220)
|
Velopharyngeal insufficiency |
|
|
|
|
10 / 7739
|
37
|
(HPO:0000288)
|
Abnormality of the philtrum |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
38
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
39
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
40
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
41
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
42
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
43
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
44
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
45
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
46
|
(HPO:0000391)
|
Thickened helices |
|
|
|
|
8 / 7739
|
47
|
(OMIM)
|
Broad flat nose |
|
|
|
|
4 / 7739
|
48
|
(OMIM)
|
Congenital cardiac malformations, variable |
|
|
|
|
1 / 7739
|
49
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
50
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
51
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
52
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
53
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
54
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
55
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
56
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
57
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
58
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
59
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
60
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|