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 438 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
- Cerebrotendineous 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
H
- H syndrome
- Hall-Riggs syndrome
- Halperin-Birk syndrome
- Hamanishi Ueba Tsuji syndrome
- Harding ataxia
- Harlequin-type ichthyosis
- Hartnup disease
- Heimler syndrome
- Hemophagocytic lymphohistiocytosis
- Hereditary folate malabsorption
- Hereditary pyropoikilocytosis
- Hermansky–Pudlak syndrome
- Histidinemia
- Holocarboxylase synthetase deficiency