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AUTOSOMAL RECESSIVE DISORDERS LIST

 
The list of disorders are given in alphabetical order below:

1 (list)
  • 17-beta-hydroxysteroid dehydrogenase deficiency
2 (list)
  • 2-Hydroxyglutaric aciduria
3 (list)
  • 3-Methylcrotonyl-CoA carboxylase deficiency
A (list)
  • Abdallat Davis Farrage syndrome
  • Abderhalden-Kaufmann-Lignac syndrome
  • Abetalipoproteinemia
  • Ablepharon macrostomia syndrome
  • Acatalasia
  • Aceruloplasminemia
  • Acheiropodia
  • Acrocallosal syndrome
  • Acrodermatitis enteropathica
  • Acute fatty liver of pregnancy
  • Adducted thumb syndrome
  • Adenine phosphoribosyltransferase deficiency
  • Adenosine deaminase deficiency
  • Adenylosuccinate lyase deficiency
  • Aicardi-Goutieres syndrome
  • Aldolase A deficiency
  • Alkaptonuria
  • Alpha-mannosidosis
  • Antley-Bixler syndrome
  • Argininemia
  • Argininosuccinic aciduria
  • Arterial tortuosity syndrome
  • Aspartylglucosaminuria
  • Atelosteogenesis, type II
  • Atransferrinemia
B (list)
  • Bare lymphocyte syndrome
  • Batten disease
  • Behr's syndrome
  • Bernard-Soulier syndrome
  • Beta-ketothiolase deficiency
  • Beta-mannosidosis
  • Bietti's crystalline dystrophy
  • Biotinidase deficiency
  • Bloom syndrome
  • Blue diaper syndrome
C (list)
  • CAMFAK syndrome
  • Canavan disease
  • Carbamoyl phosphate synthetase I deficiency
  • Carnitine palmitoyltransferase I deficiency
  • Carnitine palmitoyltransferase II deficiency
  • Carnitine-acylcarnitine translocase deficiency
  • Carnosinemia
  • Carpenter syndrome
  • Cartilage-hair hypoplasia
  • Cenani Lenz syndactylism
  • Cerebrotendineous xanthomatosis
  • Chediak-Higashi syndrome
  • Chondrodystrophy
  • Chorea acanthocytosis
  • Citrullinemia
  • Cockayne syndrome
  • Congenital adrenal hyperplasia
  • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • Congenital hepatic fibrosis
  • Congenital ichthyosiform erythrodema
  • Congenital insensitivity to pain with anhidrosis
  • Craniodiaphyseal dysplasia
  • Cystathioninuria
  • Cystic fibrosis
  • Cystinosis
  • Cystinuria
D (list)
  • D-Glyceric acidemia
  • Diastrophic dysplasia
  • Dihydropyrimidine dehydrogenase deficiency
  • Donohue syndrome
  • Dubin-Johnson syndrome
  • Dubowitz syndrome
E (list)
  • EEM syndrome
  • Ellis-van Creveld syndrome
  • Essential fructosuria
  • Ethylmalonic encephalopathy
F (list)
  • Familial Mediterranean fever
  • Familial dysautonomia
  • Familial isolated vitamin E deficiency
  • Fanconi anemia
  • Farber disease
  • Fibrochondrogenesis
  • Fountain syndrome
  • Fraser syndrome
  • Friedreich's ataxia
  • Fucosidosis
  • Fumarase deficiency
G (list)
  • GM2-gangliosidosis, AB variant
  • Galactokinase deficiency
  • Galactose epimerase deficiency
  • Galactose-1-phosphate uridylyltransferase galactosemia
  • Galloway Mowat syndrome
  • Gangliosidosis
  • Gastroschisis
  • Gaucher's disease
  • Gerodermia osteodysplastica
  • Giant axonal neuropathy
  • Gitelman syndrome
  • Glanzmann's thrombasthenia
  • Glucose-galactose malabsorption
  • Glutaric acidemia type 2
  • Glutaric aciduria type 1
  • Glutathione synthetase deficiency
  • Glycogen storage disease type I
  • Glycogen storage disease type II
  • Glycogen storage disease type III
  • Glycogen storage disease type V
  • Phosphofructokinase deficiency
  • Griscelli syndrome
  • Guanidinoacetate methyltransferase deficiency
  • Gunther disease
H (list)
  • Harlequin type ichthyosis
  • Hartnup disease
  • Hemophagocytic lymphohistiocytosis
  • Hereditary pyropoikilocytosis
  • Hermansky-Pudlak syndrome
  • Histidinemia
  • Holocarboxylase synthetase deficiency
  • Homocystinuria
  • Hurler syndrome
  • Hyperlysinemia
  • Hypermethioninemia
  • Hyperprolinemia
  • Hypertryptophanemia
  • Hypervalinemia
I (list)
  • ICF syndrome
  • Ichthyosis lamellaris
  • Impossible syndrome
  • Infantile free sialic acid storage disease
  • Infantile neuroaxonal dystrophy
  • Isobutyryl-coenzyme A dehydrogenase deficiency
  • Isovaleric acidemia
J (list)
  • Jervell and Lange-Nielsen syndrome
  • Juvenile Primary Lateral Sclerosis
K (list)
  • Kaufman oculocerebrofacial syndrome
  • Keutel syndrome
  • Kindler syndrome
  • Krabbe disease
  • Kugelberg-Welander disease
L (list)
  • Lafora disease
  • Laron syndrome
  • Lecithin cholesterol acyltransferase deficiency
  • Leukocyte adhesion deficiency
  • Lipoid congenital adrenal hyperplasia
  • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
  • Lucey-Driscoll syndrome
  • Lysinuric protein intolerance
M (list)
  • Malonyl-CoA decarboxylase deficiency
  • Maple syrup urine disease
  • Meckel syndrome
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency
  • Meleda disease
  • Metachromatic leukodystrophy
  • Methemoglobinemia
  • Methylmalonic acidemia
  • Mevalonic aciduria
  • Micro syndrome
  • Microvillous inclusion disease
  • Mitochondrial trifunctional protein deficiency
  • Morquio syndrome
  • Mucolipidosis
  • Mucolipidosis type IV
  • Mucopolysaccharidosis
N (list)
  • N-Acetylglutamate synthase deficiency
  • Nemaline myopathy
  • Nephronophthisis
  • Netherton syndrome
  • Nezelof syndrome
  • Niemann-Pick disease
O (list)
  • Ochronosis
  • Oculodentodigital syndrome
  • Oguchi disease
  • Omenn syndrome
  • Ornithine translocase deficiency
  • Orotic aciduria
  • Otospondylomegaepiphyseal dysplasia
P (list)
  • Papillon-Lefevre syndrome
  • Pendred syndrome
  • Persistent Mullerian duct syndrome
  • Phenylketonuria
  • Primary carnitine deficiency
  • Primary ciliary dyskinesia
  • Progressive external ophthalmoplegia
  • Prolidase deficiency
  • Propionic acidemia
  • Pseudodominance
  • Pseudoxanthoma elasticum
  • Purine nucleoside phosphorylase deficiency
  • Pyruvate carboxylase deficiency
R (list)
  • Rabson-Mendenhall syndrome
  • Raine syndrome
  • Rapadilino syndrome
  • Recessive multiple epiphyseal dysplasia
  • Renal dysplasia-limb defects syndrome
  • Renal-hepatic-pancreatic dysplasia
  • Reproductive compensation
  • Restrictive dermopathy
  • Richner Hanhart syndrome
  • Rothmund-Thomson syndrome
  • Rotor syndrome
S (list)
  • Sabinas brittle hair syndrome
  • Saccharopinuria
  • Salla disease
  • Sandhoff disease
  • Sanfilippo syndrome
  • Sarcosinemia
  • Short-chain acyl-coenzyme A dehydrogenase deficiency
  • Shwachman-Diamond syndrome
  • Sickle-cell disease
  • Situs inversus
  • Sly syndrome
  • Smith-Lemli-Opitz syndrome
  • Succinic semialdehyde dehydrogenase deficiency
  • Sugarman syndrome
T (list)
  • Tangier disease
  • Tay-Sachs disease
  • Tetrahydrobiopterin deficiency
  • Thalassemia
  • Trimethylaminuria
  • Triosephosphate isomerase deficiency
  • Type I tyrosinemia
  • Type II tyrosinemia
  • Type III tyrosinemia
  • Tyrosinemia
U (list)
  • Urbach–Wiethe disease
  • Urocanic aciduria
  • User:NorbertHerbert/CIE
  • User:NorbertHerbert/Ichthyosis hystrix
  • Usher syndrome
V (list)
  • Very long-chain acyl-coenzyme A dehydrogenase deficiency
  • Vici syndrome
W (list)
  • Weissenbacher-Zweymüller syndrome
  • Werdnig-Hoffman disease
  • Werner syndrome
  • Wilson's disease
  • Wolman disease
  • Woodhouse-Sakati syndrome
Y (list)
  • Yunis-Varon syndrome
X (list)
  • Xeroderma pigmentosum
Z (list)
  • ZAP70 deficiency
  • Zazam Sheriff Phillips syndrome
  • Zunich-Kaye syndrome
 
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