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Wikimedia Commons has media related to Autosomal recessive diseases and disorders.
For more information on autosomal recessive inheritance, see the articles Autosome, Recessive gene and Dominance relationship.
Subcategories
This category has the following 5 subcategories, out of 5 total.
Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of approximately 440 total. This list may not reflect recent changes.
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A
- Abdallat–Davis–Farrage syndrome
- Abetalipoproteinemia
- Absent tibia-polydactyly-arachnoid cyst syndrome
- Acanthosis nigricans-muscle cramps-acral enlargement syndrome
- Acatalasia
- Aceruloplasminemia
- Acheiropodia
- Achondrogenesis type 1B
- Acrocallosal syndrome
- Acrodermatitis enteropathica
- Acute fatty liver of pregnancy
- Acyl-CoA oxidase deficiency
- Adducted thumb syndrome
- Adenine phosphoribosyltransferase deficiency
- Adenosine deaminase 2 deficiency
- Adenosine deaminase deficiency
- Adenylosuccinate lyase deficiency
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Al-Raqad syndrome
- Albinism in humans
- Aldolase A deficiency
- ALG1-CDG
- Alkaptonuria
- Alpha-aminoadipic and alpha-ketoadipic aciduria
- Alpha-mannosidosis
- Alwadei syndrome
- Aminoacylase 1 deficiency
- Aminolevulinic acid dehydratase deficiency porphyria
- Amish lethal microcephaly
- Antley–Bixler syndrome
- Apparent mineralocorticoid excess syndrome
- Arginine:glycine amidinotransferase deficiency
- Argininemia
- Argininosuccinic aciduria
- Arterial tortuosity syndrome
- Aspartylglucosaminuria
- Atelosteogenesis, type II
- Athabaskan brainstem dysgenesis syndrome
- Atransferrinemia
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive GTP cyclohydrolase I deficiency
- Autosomal recessive multiple epiphyseal dysplasia
B
- Baller–Gerold syndrome
- Bare lymphocyte syndrome
- Bare lymphocyte syndrome type II
- Batten disease
- Behr syndrome
- Berdon syndrome
- Bernard–Soulier syndrome
- Beta-ketothiolase deficiency
- Beta-mannosidosis
- Bietti's crystalline dystrophy
- Biotin-thiamine-responsive basal ganglia disease
- Biotinidase deficiency
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Bloom syndrome
- Blue diaper syndrome
- Boucher-Neuhäuser syndrome
- Boudhina-Yedes-Khiari syndrome
- Buttien-Fryns syndrome
C
- Arterial calcification due to CD73 deficiency
- Calpainopathy
- CAMFAK syndrome
- Canavan disease
- CANDLE syndrome
- Carbamoyl phosphate synthetase I deficiency
- Carey Fineman Ziter syndrome
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Carpenter syndrome
- Cartilage–hair hypoplasia
- Caspase-8 deficiency
- CD55 deficiency
- Cenani–Lenz syndactylism
- Cerebral folate deficiency
- Cerebrotendinous xanthomatosis
- Chédiak–Higashi syndrome
- CHIME syndrome
- Chondrodystrophy
- Chorea-acanthocytosis
- Chronic progressive external ophthalmoplegia
- Citrullinemia
- Cockayne syndrome
- Combarros–Calleja–Leno syndrome
- Compound heterozygosity
- Congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
- Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital amegakaryocytic thrombocytopenia
- Congenital disorder of glycosylation type IIc
- Congenital hepatic fibrosis
- Congenital hypofibrinogenemia
- Congenital ichthyosiform erythroderma
- Congenital insensitivity to pain with anhidrosis
- Cornea plana 2
- Corneal dystrophy-perceptive deafness syndrome
- Corneal-cerebellar syndrome
- Cousin–Walbraum–Cegarra syndrome
- Cranio-lenticulo-sutural dysplasia
- Craniodiaphyseal dysplasia
- Craniosynostosis and dental anomalies
- Cystathioninuria
- Cystic fibrosis
- Cystinosis
- Cystinuria
D
- D-glycerate dehydrogenase deficiency
- De Barsy syndrome
- Dermatoosteolysis, Kirghizian type
- Diastrophic dysplasia
- Dicarboxylic aminoaciduria
- Dihydropyrimidine dehydrogenase deficiency
- Dilated cardiomyopathy with ataxia syndrome
- Distal spinal muscular atrophy type 1
- Donohue syndrome
- DOOR syndrome
- Dopamine beta hydroxylase deficiency
- Dubin–Johnson syndrome
- Dubowitz syndrome
- Dysosteosclerosis
E
F
- Faciocardiorenal syndrome
- Familial dysautonomia
- Familial isolated vitamin E deficiency
- Familial Mediterranean fever
- Familial nasal acilia
- Fanconi anemia
- Farber disease
- Fatty-acid metabolism disorder
- Fibrochondrogenesis
- Fine–Lubinsky syndrome
- Finnish heritage disease
- Follicle-stimulating hormone insensitivity
- Fountain syndrome
- Fraser syndrome
- Friedreich's ataxia
- Fucosidosis
- Fumarase deficiency
G
- Galactokinase deficiency
- Galactose epimerase deficiency
- Galactose-1-phosphate uridylyltransferase deficiency
- Galactosialidosis
- Galloway–Mowat syndrome
- Gangliosidosis
- GAPO syndrome
- Gastroschisis
- Gaucher's disease
- Generalized arterial calcification of infancy
- Gerodermia osteodysplastica
- Giant axonal neuropathy
- Gillespie syndrome
- Gitelman syndrome
- Glanzmann's thrombasthenia
- Glucocorticoid deficiency 1
- Glucose-galactose malabsorption
- Glutaric acidemia type 2
- Glutaric aciduria type 1
- Glutathione synthetase deficiency
- Glycine encephalopathy
- Glycogen storage disease type I
- Glycogen storage disease type II
- Glycogen storage disease type III
- Glycogen storage disease type V
- Phosphofructokinase deficiency
- GM1 gangliosidoses
- GM2 gangliosidoses
- GM2-gangliosidosis, AB variant
- Goldmann–Favre syndrome
- Gonadotropin-releasing hormone insensitivity
- Griscelli syndrome
- Guanidinoacetate methyltransferase deficiency
- Gunther disease