|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
17603888
|
IBIS
|
322 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
29152458
|
IBIS
|
454 / 7739
|
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
29152458
|
IBIS
|
281 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
29152458
|
IBIS
|
410 / 7739
|
|
5
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
29152458
|
IBIS
|
141 / 7739
|
|
6
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
29152458
|
IBIS
|
126 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
9539328
|
IBIS
|
555 / 7739
|
|
8
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
29152458
|
IBIS
|
254 / 7739
|
|
9
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
3103372
|
IBIS
|
126 / 7739
|
|
10
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Occasional [Orphanet]
|
|
3103372
|
IBIS
|
20 / 7739
|
|
11
|
(HPO:0010729)
|
Cherry red spot of the macula |
|
|
3103372
|
IBIS
|
10 / 7739
|
|
12
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
17603888
|
IBIS
|
337 / 7739
|
|
13
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
29152458
|
IBIS
|
467 / 7739
|
|
14
|
(HPO:0001270)
|
Motor delay |
|
|
29152458
|
IBIS
|
322 / 7739
|
|
15
|
(HPO:0001369)
|
Arthritis |
|
|
29152458
|
IBIS
|
44 / 7739
|
|
16
|
(HPO:0001615)
|
Hoarse cry |
|
|
29152458
|
IBIS
|
5 / 7739
|
|
17
|
(HPO:0007470)
|
Periarticular subcutaneous nodules |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
18
|
(OMIM)
|
Laryngeal nodules |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
19
|
(OMIM)
|
Painful swollen joints |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
20
|
(OMIM)
|
Nodule show lipid-laden macrophages |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
21
|
(OMIM)
|
Hoarse cry due to laryngeal involvement |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
22
|
(OMIM)
|
Elevated urine ceramide levels |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
23
|
(OMIM)
|
Histiocytic infiltration of liver, spleen, and lungs |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
24
|
(OMIM)
|
Ceramidase deficiency |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
25
|
(HPO:0001367)
|
Abnormal joint morphology |
Occasional [Orphanet]
|
|
29152458
|
IBIS
|
53 / 7739
|
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
9539328
|
IBIS
|
949 / 7739
|
|
27
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
29152458
|
IBIS
|
492 / 7739
|
|
28
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
8747852
|
IBIS
|
112 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
29152458
|
IBIS
|
2538 / 7739
|
|
30
|
(HPO:0001386)
|
Joint swelling |
|
|
29152458
|
IBIS
|
7 / 7739
|
|
31
|
(HPO:0003676)
|
Progressive disorder |
|
|
29152458
|
IBIS
|
148 / 7739
|
|
32
|
(HPO:0003828)
|
Variable expressivity |
|
|
29152458
|
IBIS
|
130 / 7739
|
|
33
|
(HPO:0040139)
|
Lipogranulomatosis |
|
|
29152458
|
IBIS
|
1 / 7739
|
|
34
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
29152458
|
IBIS
|
62 / 7739
|
|
35
|
(HPO:0000939)
|
Osteoporosis |
|
|
9539328
|
IBIS
|
129 / 7739
|
|
36
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
8747852
|
IBIS
|
78 / 7739
|
|
37
|
(HPO:0001522)
|
Death in infancy |
|
|
17603888
|
IBIS
|
275 / 7739
|
|
38
|
(HPO:0011421)
|
Death in adolescence |
|
|
17603888
|
IBIS
|
1 / 7739
|
|
39
|
(HPO:0006515)
|
Interstitial pneumonitis |
|
|
17603888
|
IBIS
|
13 / 7739
|