ALG11-CDG
|
(Orphanet:280071)
|
Beta-propeller protein-associated neurodegeneration
|
(Orphanet:329284)
|
COG4-CDG
|
(Orphanet:263501)
|
Christianson syndrome
|
(Orphanet:85278)
|
Combined oxidative phosphorylation defect type 13
|
(Orphanet:319514)
|
Congenital cataract-hearing loss-severe developmental delay syndrome
|
(Orphanet:300313)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
|
(OMIM:615473)
|
Intellectual deficit - sparse hair - brachydactyly
|
(Orphanet:3051)
|
Intellectual deficit, X-linked, Vitale type
|
(Orphanet:85289)
|
Joubert syndrome 20
|
(OMIM:614970)
|
Lethal ataxia with deafness and optic atrophy
|
(Orphanet:1187)
|
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
|
(Orphanet:314051)
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
|
(OMIM:615159)
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
|
(OMIM:614678)
|
Pontocerebellar hypoplasia type 8
|
(Orphanet:324569)
|
Sanfilippo syndrome type D
|
(Orphanet:79272)
|
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
|
(Orphanet:324410)
|