1
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
2
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
3
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
6
|
(HPO:0002006)
|
Facial cleft |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
7
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
8
|
(HPO:0002308)
|
Arnold-Chiari malformation |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
9
|
(HPO:0002323)
|
Anencephaly |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
10
|
(HPO:0002475)
|
Myelomeningocele |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
12
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
13
|
(HPO:0003396)
|
Syringomyelia |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
14
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
16
|
(HPO:0100639)
|
Erectile abnormalities |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
17
|
(HPO:0002435)
|
Meningocele |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
18
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
19
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
20
|
(HPO:0002414)
|
Spina bifida |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
21
|
(HPO:0003474)
|
Sensory impairment |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
22
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
23
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
24
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
25
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|