1p36 deletion syndrome
|
(Orphanet:1606)
|
5q14.3 microdeletion syndrome
|
(Orphanet:228384)
|
Adenylosuccinate lyase deficiency
|
(Orphanet:46)
|
Adrenomyeloneuropathy
|
(Orphanet:139399)
|
Adult polyglucosan body disease
|
(Orphanet:206583)
|
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
|
(Orphanet:313808)
|
Alpha-mannosidosis
|
(Orphanet:61)
|
Autosomal dominant spastic paraplegia type 4
|
(Orphanet:100985)
|
Autosomal dominant spastic paraplegia type 8
|
(Orphanet:100989)
|
Autosomal recessive spastic ataxia with leukoencephalopathy
|
(Orphanet:314603)
|
Autosomal recessive spastic paraplegia type 11
|
(Orphanet:2822)
|
Autosomal recessive spastic paraplegia type 15
|
(Orphanet:100996)
|
Autosomal recessive spastic paraplegia type 45
|
(Orphanet:320396)
|
Autosomal recessive spastic paraplegia type 48
|
(Orphanet:306511)
|
Autosomal recessive spastic paraplegia type 56
|
(Orphanet:320411)
|
Autosomal recessive spastic paraplegia type 5A
|
(Orphanet:100986)
|
Autosomal recessive spastic paraplegia type 7
|
(Orphanet:99013)
|
CYSTINOSIS, NEPHROPATHIC
|
(OMIM:219800)
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
Classical phenylketonuria
|
(Orphanet:79254)
|
Cobblestone lissencephaly without muscular or ocular involvement
|
(Orphanet:352682)
|
Combined oxidative phosphorylation defect type 15
|
(Orphanet:319524)
|
Combined oxidative phosphorylation defect type 4
|
(Orphanet:254925)
|
Congenital muscular dystrophy with cerebellar involvement
|
(Orphanet:370959)
|
Cystinosis
|
(Orphanet:213)
|
Dihydropyrimidine dehydrogenase deficiency
|
(Orphanet:1675)
|
Dihydropyrimidinuria
|
(Orphanet:38874)
|
Emanuel syndrome
|
(Orphanet:96170)
|
Fabry disease
|
(Orphanet:324)
|
Fucosidosis
|
(Orphanet:349)
|
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
|
(Orphanet:2180)
|
Hyperornithinemia-hyperammonemia-homocitrullinuria
|
(Orphanet:415)
|
Hypotonia-cerebral atrophy-hyperglycinemia syndrome
|
(Orphanet:363424)
|
Infantile cerebellar-retinal degeneration
|
(Orphanet:313850)
|
Leber plus disease
|
(Orphanet:99718)
|
Leigh syndrome with leukodystrophy
|
(Orphanet:255241)
|
Leigh syndrome with nephrotic syndrome
|
(Orphanet:255249)
|
Leukoencephalopathy - metaphyseal chondrodysplasia
|
(Orphanet:83629)
|
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate
|
(Orphanet:314051)
|
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
|
(Orphanet:137898)
|
Lissencephaly due to LIS1 mutation
|
(Orphanet:95232)
|
MEGALENCEPHALY WITH DYSMYELINATION
|
(OMIM:249240)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
|
(OMIM:613192)
|
MERRF
|
(Orphanet:551)
|
METACHROMATIC LEUKODYSTROPHY
|
(OMIM:250100)
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
(OMIM:613662)
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5
|
(OMIM:613153)
|
McLeod neuroacanthocytosis syndrome
|
(Orphanet:59306)
|
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
|
(Orphanet:329332)
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
|
(Orphanet:369897)
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
|
(Orphanet:279934)
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
Monosomy 18q
|
(Orphanet:1600)
|
Multiple acyl-CoA dehydrogenase deficiency
|
(Orphanet:26791)
|
Navajo neurohepatopathy
|
(Orphanet:255229)
|
OCULODENTODIGITAL DYSPLASIA
|
(OMIM:164200)
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
PEROXISOME BIOGENESIS DISORDER 6B
|
(OMIM:614871)
|
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
|
(OMIM:614501)
|
Pyruvate dehydrogenase E3 deficiency
|
(Orphanet:2394)
|
Recessive mitochondrial ataxia syndrome
|
(Orphanet:94125)
|
Ribose 5-phosphate isomerase deficiency
|
(OMIM:608611)
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
(Orphanet:277)
|
Short chain acyl-CoA dehydrogenase deficiency
|
(Orphanet:26792)
|
Sneddon syndrome
|
(Orphanet:820)
|
Spastic paraplegia 64, autosomal recessive
|
(OMIM:615683)
|
Spastic paraplegia type 2
|
(Orphanet:99015)
|
Steinert myotonic dystrophy
|
(Orphanet:273)
|
TMEM165-CDG
|
(Orphanet:314667)
|
Tyrosinemia type 3
|
(Orphanet:69723)
|
X-linked Charcot-Marie-Tooth disease type 1
|
(Orphanet:101075)
|
X-linked cerebral adrenoleukodystrophy
|
(Orphanet:139396)
|
Zellweger-like syndrome without peroxisomal anomalies
|
(Orphanet:50812)
|