|
1
|
(HPO:0000272)
|
Malar flattening |
rare [HPO:skoehler]
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000705)
|
Amelogenesis imperfecta |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
|
3
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
11
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
12
|
(HPO:0001955)
|
Unexplained fevers |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
13
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
14
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
15
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
16
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
17
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
21
|
(HPO:0011800)
|
Midface retrusion |
rare [HPO:skoehler]
|
|
|
|
221 / 7739
|
|
22
|
(HPO:0100252)
|
Diaphyseal dysplasia |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
24
|
(OMIM)
|
Eye abnormalities |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Dysplastic ribs (1 patient) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Dysplastic vertebrae |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0008802)
|
Hypoplasia of the femoral head |
|
|
|
|
6 / 7739
|
|
28
|
(OMIM)
|
Dysplastic fourth metacarpals (1 patient) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Dysplastic fourth metatarsals (1 patient) |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
31
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
32
|
(OMIM)
|
Abnormal fat distribution |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
34
|
(OMIM)
|
N-glycosylation defect |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
37
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
38
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|