ALG13-CDG
|
(Orphanet:324422)
|
Adenylosuccinate lyase deficiency
|
(Orphanet:46)
|
CLN7 disease
|
(Orphanet:228366)
|
COENZYME Q10 DEFICIENCY, PRIMARY, 3
|
(OMIM:614652)
|
Combined oxidative phosphorylation defect type 14
|
(Orphanet:319519)
|
Congenital intrauterine infection-like syndrome
|
(Orphanet:1229)
|
Congenital muscular dystrophy with intellectual disability and severe epilepsy
|
(Orphanet:329178)
|
Constitutional megaloblastic anemia with severe neurologic disease
|
(Orphanet:319651)
|
D-glyceric aciduria
|
(Orphanet:941)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
|
(OMIM:614558)
|
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
|
(Orphanet:319678)
|
Gamma-aminobutyric acid transaminase deficiency
|
(Orphanet:2066)
|
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
|
(Orphanet:137681)
|
Lissencephaly due to LIS1 mutation
|
(Orphanet:95232)
|
Microcephaly-capillary malformation syndrome
|
(Orphanet:294016)
|