|
1
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
|
4
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
9
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
10
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
11
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
12
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
13
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
14
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
15
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
16
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
17
|
(HPO:0000045)
|
Abnormality of the scrotum |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
18
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|