|
3-hydroxy-3-methylglutaric aciduria
|
(Orphanet:20)
|
|
3C syndrome
|
(Orphanet:7)
|
|
AICARDI-GOUTIERES SYNDROME 3
|
(OMIM:610329)
|
|
AICARDI-GOUTIERES SYNDROME 4
|
(OMIM:610333)
|
|
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3
|
(OMIM:170995)
|
|
Acro-cardio-facial syndrome
|
(Orphanet:2008)
|
|
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS
|
(OMIM:211200)
|
|
Bullous dystrophy, macular type
|
(Orphanet:1867)
|
|
CEREBROOCULOFACIOSKELETAL SYNDROME 2
|
(OMIM:610756)
|
|
CLN9 disease
|
(Orphanet:228357)
|
|
COFS syndrome
|
(Orphanet:1466)
|
|
Combined oxidative phosphorylation defect type 11
|
(Orphanet:324535)
|
|
Early myoclonic encephalopathy
|
(Orphanet:1935)
|
|
Free sialic acid storage disease, infantile form
|
(Orphanet:309324)
|
|
GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY
|
(OMIM:233600)
|
|
Gamma-aminobutyric acid transaminase deficiency
|
(Orphanet:2066)
|
|
Griscelli disease type 2
|
(Orphanet:79477)
|
|
Hurler syndrome
|
(Orphanet:93473)
|
|
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
|
(Orphanet:289290)
|
|
Johanson-Blizzard syndrome
|
(Orphanet:2315)
|
|
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
(OMIM:611722)
|
|
Keratosis follicularis - dwarfism - cerebral atrophy
|
(Orphanet:2339)
|
|
Lethal ataxia with deafness and optic atrophy
|
(Orphanet:1187)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5
|
(OMIM:613153)
|
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
|
Mucolipidosis type 2
|
(Orphanet:576)
|
|
Neuroectodermal melanolysosomal disease
|
(Orphanet:33445)
|
|
Oxoglutaricaciduria
|
(Orphanet:31)
|
|
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
|
(OMIM:214110)
|
|
Pontocerebellar hypoplasia type 2
|
(Orphanet:2524)
|
|
Pontocerebellar hypoplasia type 6
|
(Orphanet:166073)
|
|
Progressive familial intrahepatic cholestasis type 2
|
(Orphanet:79304)
|
|
Pyruvate dehydrogenase E1-alpha deficiency
|
(Orphanet:79243)
|
|
Pyruvate dehydrogenase E3-binding protein deficiency
|
(Orphanet:255182)
|
|
Pyruvate dehydrogenase lipoic acid synthetase deficiency
|
(OMIM:614462)
|
|
RADICULONEUROPATHY, FATAL NEONATAL
|
(OMIM:266250)
|
|
STT3B-CDG
|
(Orphanet:370924)
|
|
Severe X-linked intellectual deficit, Gustavson type
|
(Orphanet:3078)
|
|
Short-limb skeletal dysplasia with severe combined immunodeficiency
|
(Orphanet:935)
|
|
Sialidosis type 2
|
(Orphanet:87876)
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
(Orphanet:26793)
|