Category:Autosomal recessive disorders

1

• 17-beta-hydroxysteroid dehydrogenase deficiency

2

• 2-Hydroxyglutaric aciduria
• 2-Methylbutyryl-CoA dehydrogenase deficiency

3

• 3-Methylcrotonyl-CoA carboxylase deficiency

6

• 6-Pyruvoyltetrahydropterin synthase deficiency

A

• 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
• Aldolase A deficiency
• Alkaptonuria
• Alpha-mannosidosis
• Aminolevulinic acid dehydratase deficiency porphyria
• Antley–Bixler syndrome
• Apparent mineralocorticoid excess syndrome
• Argininemia
• Argininosuccinic aciduria
• Arterial tortuosity syndrome
• Aspartylglucosaminuria
• Atelosteogenesis, type II
• Atransferrinemia
• Autosomal recessive multiple epiphyseal dysplasia

B

• Bare lymphocyte syndrome
• Batten disease
• Behr syndrome
• Berdon syndrome
• Bernard–Soulier syndrome
• Beta-ketothiolase deficiency
• Beta-mannosidosis
• BIDS syndrome
• Bietti's crystalline dystrophy
• Biotinidase deficiency
• Bloom syndrome
• Blue diaper syndrome

C

• 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
• Chédiak–Higashi syndrome
• Cholesteryl ester storage disease
• Chondrodystrophy
• Chorea acanthocytosis
• Chronic progressive external ophthalmoplegia
• Citrullinemia
• Cockayne syndrome
• Compound heterozygosity
• Congenital adrenal hyperplasia
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Congenital disorder of glycosylation type IIc
• Congenital hepatic fibrosis

C cont.

• Congenital ichthyosiform erythroderma
• Congenital insensitivity to pain with anhidrosis
• Craniodiaphyseal dysplasia
• Cranio–lenticulo–sutural dysplasia
• Cystathioninuria
• Cystic fibrosis
• Cystinosis
• Cystinuria

D

• De Barsy syndrome
• Diastrophic dysplasia
• Dihydropyrimidine dehydrogenase deficiency
• Distal spinal muscular atrophy type 1
• Donohue syndrome
• DOOR syndrome
• Dubin–Johnson syndrome
• Dubowitz syndrome

E

• EAST syndrome
• EEM syndrome
• Ellis–van Creveld syndrome
• Endocardial fibroelastosis
• Essential fructosuria
• Ethylmalonic encephalopathy

F

• Familial dysautonomia
• Familial isolated vitamin E deficiency
• Familial Mediterranean fever
• Fanconi anemia
• Farber disease
• Fatty-acid metabolism disorder
• Fibrochondrogenesis
• 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
• Gerodermia osteodysplastica
• Giant axonal neuropathy
• Gillespie syndrome
• Gitelman syndrome
• Glanzmann's thrombasthenia
• 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
• Gonadotropin-releasing hormone insensitivity
• Griscelli syndrome
• Guanidinoacetate methyltransferase deficiency
• Gunther disease

H

• Harding ataxia
• 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

• Idiopathic infantile arterial calcification
• Iminoglycinuria
• Immunodeficiency–centromeric instability–facial anomalies syndrome
• Impossible syndrome
• Infantile free sialic acid storage disease
• Infantile neuroaxonal dystrophy
• Infantile Refsum disease
• Isobutyryl-coenzyme A dehydrogenase deficiency
• Isolated 17,20-lyase deficiency
• Isovaleric acidemia

J

• Jalili syndrome
• Jansky–Bielschowsky disease
• Jervell and Lange-Nielsen syndrome
• Johanson–Blizzard syndrome
• Juvenile primary lateral sclerosis

K

• Kapur–Toriello syndrome
• Kaufman oculocerebrofacial syndrome
• Keutel syndrome
• Kindler syndrome
• Kohlschütter-Tönz syndrome
• Kostmann syndrome
• Krabbe disease

L

• Lafora disease
• Lamellar ichthyosis
• Laron syndrome
• Laurence–Moon syndrome
• Lecithin cholesterol acyltransferase deficiency
• Lethal congenital contracture syndrome
• Letterer–Siwe disease
• Leukocyte adhesion deficiency
• Leukocyte adhesion deficiency-1
• Leydig cell hypoplasia
• Lipoid congenital adrenal hyperplasia
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Lucey–Driscoll syndrome
• Lysinuric protein intolerance
• Lysosomal Acid Lipase Deficiency

M

• Malonyl-CoA decarboxylase deficiency
• Malpuech facial clefting syndrome
• Maple syrup urine disease
• Marden–Walker syndrome
• Meckel syndrome
• Medium-chain acyl-coenzyme A dehydrogenase deficiency
• Meleda disease
• Metachromatic leukodystrophy
• Methemoglobinemia
• Methylmalonic acidemia
• Mevalonate kinase deficiency
• Michels syndrome
• Micro syndrome
• Microspherophakia