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- Alpha-1 antitrypsin deficiency
- Alpha-mannosidosis
- Autosomal recessive polycystic kidney diseaseОБНОВЛЕНО
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Beta ThalassemiaОБНОВЛЕНО
- Biotinidase deficiency
- Birt-Hogg-Dube syndrome
- Bloom syndrome
- Brugada syndrome
- Canavan DiseaseОБНОВЛЕНО
- Classical homocystinuria due to CBS deficiency
- Complete achromatopsia (type 2) and Incomplete achromatopsia
- Congenital disorder of glycosylation type 1a (PMM2-CDG)
- Congenital myasthenic syndrome
- Congenital stationary night blindness 1C
- Corpus callosum agenesis with peripheral neuropathyОБНОВЛЕНО
- Cystic FibrosisОБНОВЛЕНО
- Cystinosis
- D-Bifunctional protein deficiency
- Dihydrolipoamide dehydrogenase deficiency
- Dilated cardiomyopathy 1A
- Dubin-Johnson syndrome
- Dystrophic dysplasia
- Ehlers-Danlos syndrome
- Familial adenomatous polyposis
- Familial advanced sleep phase disorder
- Familial hypercholesterolemiaОБНОВЛЕНО
- Familial hyperinsulinism (related to ABCC8)
- Familial hypertrophic cardiomyopathy
- Familial mediterranean feverОБНОВЛЕНО
- Familial Transthyretin AmyloidosisОБНОВЛЕНО
- Fanconi anemia (FANCC related)
- Gaucher diseaseОБНОВЛЕНО
- Glucose-6-phosphate dehydrogenase deficiency (G6PD)ОБНОВЛЕНО
- Glutaryl-CoA type 1
- Glutaryl-CoA type 2
- Glycogen storage disease type 1B
- Glycogen storage disease type 3
- Glycogen storage disease type 5
- Glycogen type 1A or Von Gierke disease
- Glycogen type 2 or Pompe disease
- GRACILE syndrome
- Hereditary Breast and Ovarian Cancer
- Hereditary fructose intolerance
- Hereditary hemochromatosis associated with HFE
- Hypokalemic periodic paralysis
- Hypophosphatasia
- Junctional epidermolysis bullosa
- Leigh Syndrome, French-Canadian type (LSFC)
- Leukoencephalopathy with vanishing white matter
- Li-Fraumeni syndrome
- Limb-girdle muscular dystrophy
- Malignant hyperthermia
- Maple syrup urine disease type 1B
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- Metachromatic leukodystrophy
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Methylmalonic aciduria type cblA
- Methylmalonic aciduria type cblB
- Mucolipidosis IV
- Mucolipidosis type II
- Multiple endocrine neoplasia 2B
- Neuronal Ceroid-Lipofuscinoses type 1 (associated to PPT1)
- Neuronal Ceroid-Lipofuscinoses type 3 (associated to CLN3)
- Neuronal Ceroid-Lipofuscinoses type 5 (associated to CLN5)
- Neuronal Ceroid-Lipofuscinoses type 6 (associated to CLN6)
- Neuronal Ceroid-Lipofuscinoses type 7 (associated to MFSD8)
- Niemann-Pick disease type AОБНОВЛЕНО
- Non-syndromic mitochondrial hearing loss
- Nonsyndromic Hearing Loss and Deafness, DFNB1
- Oculocutaneous albinism type 1 (tyrosinase negative)
- Oculocutaneous albinism type 2 (tyrosinase positive)
- Pendred syndrome
- Peters plus syndrome
- PhenylketonuriaОБНОВЛЕНО
- Pontocerebellar hypoplasia
- Porphyria
- Primary hyperoxaluria type 1 (PH1)
- Primary hyperoxaluria type 2 (PH2)
- Pyridoxine-dependent epilepsy
- Refsum disease
- Retinitis pigmentosa
- Rhizomelic chondrodysplasia punctata type 1
- Riley Day syndrome (Familial dysautonomia)
- Salla disease
- Short chain acyl-CoA dehydrogenase deficiency (SCADD)
- Sjögren-Larsson syndrome
- Spinal muscular atrophy
- Tay-Sachs disease
- Tyrosinemia type I
- Usher syndrome
- Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
- Wilson disease
- Zellweger syndrome
- α-Congenital muscular dystroglycanopathy and Walker-Warburg syndrome