|
1
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
6
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
7
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
9
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
10
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0100777)
|
Exostoses |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
14
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
|
15
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
16
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
17
|
(HPO:0012471)
|
Thick vermilion border |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|