|
1
|
(HPO:0000511)
|
Vertical supranuclear gaze palsy |
|
|
|
|
4 / 7739
|
|
2
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
15
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
16
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
18
|
(HPO:0001791)
|
Fetal ascites |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0001982)
|
Sea-blue histiocytosis |
|
|
|
|
7 / 7739
|
|
20
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
21
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
22
|
(HPO:0002185)
|
Neurofibrillary tangles |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
24
|
(HPO:0002371)
|
Loss of speech |
|
|
|
|
15 / 7739
|
|
25
|
(HPO:0002524)
|
Cataplexy |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0003349)
|
Low cholesterol esterification rates |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0003464)
|
Abnormal cholesterol homeostasis |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0003640)
|
Foam cells in visceral organs and CNS |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0004333)
|
Bone-marrow foam cells |
|
|
|
|
11 / 7739
|
|
30
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
|
31
|
(OMIM)
|
Pulmonary involvement, severe |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
33
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
34
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
35
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
36
|
(OMIM)
|
Foam cells on bone marrow biopsy |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Normal or mildly reduced sphingomyelinase activity |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy |
|
|
|
|
2 / 7739
|