|
1
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0003782)
|
Eunuchoid habitus |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0000276)
|
Long face |
Very frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
7
|
(HPO:0100818)
|
Long thorax |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
9
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0100651)
|
Type I diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
13
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
14
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
15
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0003191)
|
Cleft ala nasi |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
19
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
20
|
(OMIM)
|
Narrow-based broad nose |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Coloboma of alae nasi |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
23
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|