|
1
|
(HPO:0000112)
|
Nephropathy |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
|
7
|
(HPO:0001541)
|
Ascites |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
8
|
(HPO:0001789)
|
Hydrops fetalis |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
10
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
12
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
13
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
14
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
16
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
19
|
(HPO:0005561)
|
Abnormality of bone marrow cell morphology |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
21
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
22
|
(HPO:0010741)
|
Edema of the lower limbs |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
23
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
24
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
25
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
27
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
30
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
31
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
32
|
(HPO:0001698)
|
Pericardial effusion |
|
|
|
|
20 / 7739
|
|
33
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
34
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
35
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
36
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|
|
37
|
(HPO:0004333)
|
Bone-marrow foam cells |
|
|
|
|
11 / 7739
|
|
38
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|