|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
3
|
(HPO:0001519)
|
Disproportionate tall stature |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
5
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
7
|
(HPO:0000083)
|
Renal insufficiency |
Very frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
8
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
10
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
12
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
13
|
(HPO:0002119)
|
Ventriculomegaly |
Very frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0100820)
|
Glomerulopathy |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
16
|
(HPO:0000099)
|
Glomerulonephritis |
|
|
|
|
13 / 7739
|
|
17
|
(OMIM)
|
Prominent fourth ventricles by CT scan |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Dorsal kyphosis |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|