Alagille syndrome due to 20p12 microdeletion
|
(Orphanet:261600)
|
Alagille syndrome due to a JAG1 point mutation
|
(Orphanet:261619)
|
Ataxia with vitamin E deficiency
|
(Orphanet:96)
|
Cerebrotendinous xanthomatosis
|
(Orphanet:909)
|
Familial LCAT deficiency
|
(Orphanet:79293)
|
GLYCOGEN STORAGE DISEASE Ic
|
(OMIM:232240)
|
Glycogen storage disease due to glucose-6-phosphatase deficiency type a
|
(Orphanet:79258)
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
|
(OMIM:144010)
|
HYPERCHOLESTEROLEMIA, FAMILIAL
|
(OMIM:143890)
|
HYPERLIPIDEMIA, FAMILIAL COMBINED
|
(OMIM:144250)
|
LCAT deficiency
|
(Orphanet:650)
|
Niemann-Pick disease type A
|
(Orphanet:77292)
|
[DEL] GLYCOGEN STORAGE DISEASE Ib
|
(OMIM:232220)
|