|
1
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
5
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
6
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
10
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
13
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
14
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
15
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
16
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
19
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
20
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
21
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
22
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
23
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
24
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
25
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
26
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
27
|
(HPO:0009466)
|
Radial deviation of finger |
Very frequent [Orphanet]
|
|
|
|
101 / 7739
|
|
28
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|