1
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
3
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
5
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
6
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
7
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
8
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
9
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
10
|
(HPO:0001188)
|
Hand clenching |
|
|
|
|
9 / 7739
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
13
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
14
|
(HPO:0002791)
|
Hypoventilation |
|
|
|
|
10 / 7739
|
15
|
(HPO:0002943)
|
Thoracic scoliosis |
|
|
|
|
12 / 7739
|
16
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
17
|
(HPO:0010557)
|
Overlapping fingers |
|
|
|
|
9 / 7739
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
20
|
(OMIM)
|
Glucosidase I deficiency in liver and fibroblasts |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Normal isoelectric focusing of serum transferrin |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Abnormal urinary oligosaccharides |
|
|
|
|
1 / 7739
|
23
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
25
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
26
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
27
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
28
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
29
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
30
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
31
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
32
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|