|
1
|
(HPO:0001508)
|
Failure to thrive |
Very frequent [IBIS]
|
|
25987176
|
IBIS
|
454 / 7739
|
|
2
|
(HPO:0001433)
|
Hepatosplenomegaly |
Very frequent [IBIS]
|
|
25987176
|
IBIS
|
78 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
|
25987176
|
IBIS
|
990 / 7739
|
|
4
|
(HPO:0010729)
|
Cherry red spot of the macula |
typical [HPO]
frequent [IBIS]
|
|
25987176
|
IBIS
|
10 / 7739
|
|
5
|
(HPO:0002344)
|
Progressive neurologic deterioration |
Frequent [IBIS]
|
|
25987176
|
IBIS
|
27 / 7739
|
|
6
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0000991)
|
Xanthomatosis |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
13
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
14
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
15
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
16
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
17
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
19
|
(HPO:0001935)
|
Microcytic anemia |
|
|
|
|
32 / 7739
|
|
20
|
(HPO:0001982)
|
Sea-blue histiocytosis |
|
|
|
|
7 / 7739
|
|
21
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
22
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
23
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
24
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
25
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
|
|
28 / 7739
|
|
26
|
(HPO:0002207)
|
Diffuse reticular or finely nodular infiltrations |
|
|
|
|
11 / 7739
|
|
27
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
28
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
29
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
30
|
(HPO:0008940)
|
Generalized lymphadenopathy |
|
|
|
|
14 / 7739
|
|
31
|
(HPO:0003609)
|
Foam cells with lamellar inclusion bodies |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
33
|
(HPO:0004333)
|
Bone-marrow foam cells |
|
|
|
|
11 / 7739
|
|
34
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
|
35
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
36
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
37
|
(OMIM)
|
Cherry-red maculae (50%) |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Gray, granular-appearing maculae |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
40
|
(HPO:0001039)
|
Atheroeruptive xanthoma |
|
|
|
|
9 / 7739
|
|
41
|
(HPO:0001114)
|
Xanthelasma |
|
|
|
|
13 / 7739
|
|
42
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
43
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
44
|
(OMIM)
|
Decreased acid sphingomyelinase activity |
|
|
|
|
3 / 7739
|
|
45
|
(OMIM)
|
Multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Electron microscopy of foam cells shows lamellar inclusions |
|
|
|
|
3 / 7739
|