3-phosphoglycerate dehydrogenase deficiency
|
(Orphanet:79351)
|
Adducted thumbs - arthrogryposis, Christian type
|
(Orphanet:2952)
|
Alpha-mannosidosis
|
(Orphanet:61)
|
Bifunctional enzyme deficiency
|
(Orphanet:300)
|
Bilateral frontoparietal polymicrogyria
|
(Orphanet:101070)
|
Classical phenylketonuria
|
(Orphanet:79254)
|
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
(OMIM:611722)
|
MEGALENCEPHALY WITH DYSMYELINATION
|
(OMIM:249240)
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
Mucolipidosis type 4
|
(Orphanet:578)
|
Neurologic Waardenburg-Shah syndrome
|
(Orphanet:163746)
|
PELIZAEUS-MERZBACHER DISEASE
|
(OMIM:312080)
|
Pyruvate dehydrogenase E1-alpha deficiency
|
(Orphanet:79243)
|