|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0000632)
|
Lacrimation abnormality |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
6
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
7
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
8
|
(HPO:0002803)
|
Congenital contracture |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
9
|
(OMIM)
|
Severe congenital contractures |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal chromosomes |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
12
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|