3-hydroxy-3-methylglutaric aciduria
|
(Orphanet:20)
|
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
|
(OMIM:211200)
|
CEREBROOCULOFACIOSKELETAL SYNDROME 4
|
(OMIM:610758)
|
CLN9 disease
|
(Orphanet:228357)
|
Early myoclonic encephalopathy
|
(Orphanet:1935)
|
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
|
(Orphanet:168566)
|
Gamma-aminobutyric acid transaminase deficiency
|
(Orphanet:2066)
|
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
(OMIM:611722)
|
Keratosis follicularis - dwarfism - cerebral atrophy
|
(Orphanet:2339)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13
|
(OMIM:615287)
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
NEPHROSIALIDOSIS
|
(OMIM:256150)
|
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
|
(OMIM:214110)
|