Category:Autosomal recessive disorders
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For more information on autosomal recessive inheritance, see the articles Autosome, Recessive gene and Dominance relationship.
Subcategories
This category has the following 3 subcategories, out of 3 total.
C
I
S
Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of 227 total.
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A
- Abetalipoproteinemia
- Acatalasia
- Acrodermatitis enteropathica
- Acute fatty liver of pregnancy
- Adenine phosphoribosyltransferase deficiency
- Adenosine Deaminase 2 deficiency
- Albinism in humans
- Aldolase A deficiency
- ALG1-CDG (CDG-Ik)
- Alkaptonuria
- Anauxetic dysplasia
- Apparent mineralocorticoid excess syndrome
- Aspartylglucosaminuria
- Ataxia with vitamin E deficiency
- Atelosteogenesis type 2
- Atransferrinemia
- Autosomal recessive disorders
- Autosomal recessive isolated ectopia lentis
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
C
- Canavan disease
- Carbamoyl phosphate synthetase 1 deficiency
- Carey-Fineman-Ziter syndrome
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine palmitoyltransferase 2 deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Carpenter syndrome
- Cartilage–hair hypoplasia
- Cenani–Lenz syndactylism
- Chédiak–Higashi syndrome
- Chondrodysplasia, Grebe type
- Chorea-acanthocytosis
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
- Chronic progressive external ophthalmoplegia
- Cockayne syndrome
- Cone-rod dystrophy amelogenesis imperfecta
- Cystic fibrosis
- Cystinuria
D
F
- Familial LCAT deficiency
- Familial Mediterranean fever
- Familial nasal acilia
- Fanconi anemia
- Farber disease
- Fibrochondrogenesis
- Fitzsimmons–Guilbert syndrome
- Follicle-stimulating hormone insensitivity
- Fraser syndrome
- Friedreich's ataxia
- Fucosidosis
- Fukuyama congenital muscular dystrophy
- Fumarase deficiency
G
- Galactosialidosis
- GAPO syndrome
- Gastroschisis
- Gaucher disease perinatal lethal
- Gaucher's disease
- Generalized arterial calcification of infancy
- Gitelman syndrome
- Glutaric aciduria type 1
- Glycogen storage disease type 5
- Glycogen storage disease type I
- Generalized gangliosidoses
- Glycogen storage disease type 2
- Glycogen storage disease type II
- Glycogen storage disease type 3
- GM1 gangliosidoses
- Goldmann–Favre syndrome
- Griscelli syndrome type 3
- Gyrate atrophy of choroid and retina
H
- H syndrome
- Haim–Munk syndrome
- Hartnup disease
- Hemophagocytic lymphohistiocytosis
- Hennekam syndrome
- Hereditary methemoglobinemia
- Hereditary orotic aciduria without megaloblastic anaemia
- Hermansky Pudlak syndrome 2
- HIOC
- Histidinemia
- Histiocytosis-lymphadenopathy plus syndrome
- Holocarboxylase synthetase
- Homocystinuria
- Homocystinuria due to CBS deficiency
- Hydrolethalus syndrome
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- Hyperprolinemia type 2
- Hypoparathyroidism-intellectual disability-dysmorphism syndrome
I
L
M
- McArdle's disease
- Meckel–Gruber syndrome
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Metachromatic leukodystrophy
- Methemoglobinemia
- Mevalonate kinase deficiency
- Mild phenylketonuria
- Miller syndrome
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Morquio syndrome
- Mucopolysaccharidosis type IVA
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- Mucolipidosis III alpha/beta
- Multiple sulfatase deficiency
- Myopathic carnitine deficiency
N
- N-Acetylglutamate synthase deficiency
- Nephronophthisis
- Netherton syndrome
- Neuronal ceroid lipofuscinosis
- Ceroid lipofuscinosis neuronal 1
- Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis 3
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis 6
- Neuronal ceroid lipofuscinosis 7
- Niemann-Pick disease type B
- Niemann-Pick disease type A
- Niemann-Pick disease type C1
- Niemann-Pick disease type C2
- Nijmegen breakage syndrome
O
P
- Papillon Lefevre syndrome
- Pendred syndrome
- Peroxisome biogenesis disorder-Zellweger syndrome spectrum
- Phenylketonuria
- Pontocerebellar hypoplasia
- Pontocerebellar hypoplasia type 1
- Pontocerebellar hypoplasia type 2
- Pontocerebellar hypoplasia type 4
- Pontocerebellar hypoplasia type 5
- Pontocerebellar hypoplasia type 6
- Primary ciliary dyskinesia
- Prolidase deficiency
- Propionic acidemia
- Pyknoachondrogenesis
- Pyruvate carboxylase deficiency
R
S
- Saal Greenstein syndrome
- Sandhoff disease
- Sanjad–Sakati syndrome
- Seckel syndrome
- Senior Loken Syndrome
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- SeSAME syndrome
- Sickle cell disease
- SLC35C1-CDG (CDG-IIc)
- Smith–Lemli–Opitz syndrome
- Spinal muscular atrophy
- Spinal muscular atrophy 1
- Spondyloepimetaphyseal dysplasia, Pakistani type
- Succinic semialdehyde dehydrogenase deficiency
