|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0000100)
|
Nephrotic syndrome |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
4
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
5
|
(HPO:0000790)
|
Hematuria |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
6
|
(HPO:0000093)
|
Proteinuria |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
7
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0000822)
|
Hypertension |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
12
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
13
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
14
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
15
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
16
|
(HPO:0001967)
|
Diffuse mesangial sclerosis |
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
|
|
27 / 7739
|
|
18
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
19
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0007774)
|
Hypoplasia of the ciliary body |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0011502)
|
Posterior lenticonus |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Nonreactive, fixed narrowing of the pupil ('microcoria') |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Aplasia or atrophy of the dilatator pupillae muscle |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Decreased or absent laminin beta-2 immunoreactivity in tissues of the anterior eye |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Early-onset end-stage renal disease |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Death in first weeks of life without dialysis |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Renal biopsy shows diffuse mesangial sclerosis |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Decreased or absent laminin beta-2 immunoreactivity in the glomerular basement membrane |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
30
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
31
|
(OMIM)
|
Congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Psychomotor retardation in those that survive |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Normal cognition |
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|