|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0000112)
|
Nephropathy |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0001399)
|
Hepatic failure |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
8
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
14
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
16
|
(HPO:0001560)
|
Abnormality of the amniotic fluid |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
19
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
20
|
(HPO:0001790)
|
Nonimmune hydrops fetalis |
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
22
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
23
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
|
|
16 / 7739
|
|
24
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
25
|
(OMIM)
|
Partial blindness (in some) |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
27
|
(OMIM)
|
Small, turned-up nose |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
29
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
30
|
(OMIM)
|
Seizures, recurrent, refractory |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Multifocal epileptic activity |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal) |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|