|
1
|
(HPO:0001513)
|
Obesity |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
7
|
(HPO:0000615)
|
Abnormality of the pupil |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
8
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
11
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
12
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
16
|
(HPO:0002162)
|
Low posterior hairline |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
|
18
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
21
|
(HPO:0000667)
|
Phthisis bulbi |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
23
|
(HPO:0001089)
|
Iris atrophy |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
25
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
26
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
27
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
28
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
29
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
30
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
31
|
(HPO:0007773)
|
Vitreoretinopathy |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0008037)
|
Absent anterior eye chamber |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
34
|
(OMIM)
|
Pseudoglioma |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Intraocular calcification |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Narrow diaphyses |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Long bone deformities |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Normal intelligence in most cases |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
40
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0009733)
|
Glioma |
|
|
|
|
8 / 7739
|