1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
2
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
6
|
(HPO:0002020)
|
Gastroesophageal reflux |
rare [HPO:skoehler]
|
|
|
|
101 / 7739
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
9
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
10
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
11
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
12
|
(OMIM)
|
Dysmorphic features |
|
|
|
|
6 / 7739
|
13
|
(OMIM)
|
Ocular flutter |
|
|
|
|
2 / 7739
|
14
|
(OMIM)
|
Acute nephrotic syndrome (1 patient) |
|
|
|
|
1 / 7739
|
15
|
(OMIM)
|
Shortened extremities |
|
|
|
|
1 / 7739
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
17
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
20
|
(OMIM)
|
Small cerebellum |
|
|
|
|
6 / 7739
|
21
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
22
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
|
|
44 / 7739
|
23
|
(OMIM)
|
Abnormal serum transferrin pattern |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Loss of galactose and sialic acid from multiple branches of complex type N-glycans |
|
|
|
|
1 / 7739
|
25
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
26
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
27
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
28
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
29
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
30
|
(HPO:0001442)
|
Somatic mosaicism |
|
|
|
|
7 / 7739
|
31
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
32
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|