|
1
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
4
|
(OMIM)
|
Cerebral dysfunction |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Lysosomal storage of PAS-positive, diastase-resistant substance |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Increased renal excretion of ethanolamine |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Increased hepatic ethanolamine |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Decreased hepatic ethanolamine kinase |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|