|
1
|
(HPO:0000020)
|
Urinary incontinence |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
5
|
(HPO:0000609)
|
Optic nerve hypoplasia |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
12
|
(HPO:0002019)
|
Constipation |
rare [HPO:skoehler]
|
|
|
|
194 / 7739
|
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
14
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
15
|
(HPO:0002607)
|
Bowel incontinence |
rare [HPO:skoehler]
|
|
|
|
33 / 7739
|
|
16
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
19
|
(OMIM)
|
Foot contractures |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Abnormal lipid peak on brain MRS |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Spinal cord syrinx (in 2 patients) |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|