1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0003782)
|
Eunuchoid habitus |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
3
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
4
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
5
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
7
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
8
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
9
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
10
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
11
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
12
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
13
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
14
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
15
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
16
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
17
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
18
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
19
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
20
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
21
|
(HPO:0001836)
|
Camptodactyly of toe |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
23
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
24
|
(HPO:0000078)
|
Abnormality of the genital system |
|
|
|
|
33 / 7739
|
25
|
(HPO:0000288)
|
Abnormality of the philtrum |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
26
|
(HPO:0001773)
|
Short foot |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
27
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
28
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
29
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
30
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
31
|
(OMIM)
|
Tubulation defects and large epiphyses in hands and feet |
|
|
|
|
1 / 7739
|
32
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
33
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
34
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
35
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
36
|
(HPO:0008544)
|
Abnormally folded helix |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|