List Of Diseases

Alpha-1 antitrypsin deficiency
Alpha-mannosidosis
Autosomal recessive polycystic kidney disease
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Beta Thalassemia
Biotinidase deficiency
Birt-Hogg-Dube syndrome
Bloom syndrome
Brugada syndrome
Canavan Disease
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 neuropathy
Cystic Fibrosis
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 hypercholesterolemia
Familial hyperinsulinism (related to ABCC8)
Familial hypertrophic cardiomyopathy
Familial mediterranean fever
Familial Transthyretin Amyloidosis
Fanconi anemia (FANCC related)
Gaucher disease
Glucose-6-phosphate dehydrogenase deficiency (G6PD)
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
Hemophilia ANEW
Hereditary Breast and Ovarian Cancer
Hereditary fructose intolerance
Hereditary hemochromatosis associated with HFE
Homocystinuria due to MTHFR deficiencyNEW
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 A
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
Phenylketonuria
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

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