Category:Autosomal recessive disorders
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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 4 subcategories, out of 5 total.
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Pages in category "Autosomal recessive disorders"
The following 200 pages are in this category, out of approximately 436 total. This list may not reflect recent changes.
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- H syndrome
- Hall-Riggs 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
- Homocystinuria
- Hurler syndrome
- Hyperlysinemia
- Hypermethioninemia
- Hyperprolinemia
- Hypertryptophanemia
- Hypervalinemia
- Hypomagnesemia with secondary hypocalcemia
I
- Ichthyosis-intellectual disability-dwarfism-renal impairment
- Imerslund–Gräsbeck syndrome
- Iminoglycinuria
- Immunodeficiency–centromeric instability–facial anomalies syndrome
- Infantile cerebellar retinal degeneration
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
- Infantile free sialic acid storage disease
- Infantile neuroaxonal dystrophy
- Infantile Refsum disease
- Infantile systemic hyalinosis
- Intellectual disability-spasticity-ectrodactyly syndrome
- Isobutyryl-coenzyme A dehydrogenase deficiency
- Isolated 17,20-lyase deficiency
- Isolated hyperchlorhidrosis
- Isovaleric acidemia
J
K
L
- Lafora disease
- Lamellar ichthyosis
- Laron syndrome
- Late onset congenital adrenal hyperplasia
- 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
- LPS-responsive beige-like anchor protein deficiency
- Lucey–Driscoll syndrome
- Lysinuric protein intolerance
- Lysosomal acid lipase deficiency
- Lysosomal storage disease
M
- Mahvash disease
- Malonic aciduria
- Malpuech facial clefting syndrome
- Management of thalassemia
- Mandibulofacial dysostosis-microcephaly syndrome
- Maple syrup urine disease
- Marden–Walker syndrome
- McKusick–Kaufman syndrome
- Meckel–Gruber syndrome
- Mediastinal fibrosis
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Meleda disease
- Metachromatic leukodystrophy
- Methemoglobinemia
- Methylmalonic acidemias
- Mevalonate kinase deficiency
- Michels syndrome
- Microhydranencephaly
- Microspherophakia
- Microvillous inclusion disease
- Mietens syndrome
- Mismatch repair cancer syndrome
- Mitochondrial complex II deficiency
- Mitochondrial DNA depletion syndrome
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial pyruvate carrier
- Mitochondrial pyruvate carrier 1
- Mitochondrial pyruvate carrier 2
- Mitochondrial trifunctional protein deficiency
- MORM syndrome
- Morquio syndrome
- MPI-CDG
- Mucolipidosis
- Mucolipidosis type IV
- Mucopolysaccharidosis
- Mucopolysaccharidosis type I
- Mulibrey nanism
- Multiple sulfatase deficiency
- MUTYH-associated polyposis
N
- N-Acetylglutamate synthase deficiency
- Nakajo syndrome
- Nemaline myopathy
- Nephronophthisis
- Nestor-Guillermo progeria syndrome
- Netherton syndrome
- Neu–Laxova syndrome
- Neuronal ceroid lipofuscinosis
- Nevo syndrome
- Nezelof syndrome
- NGLY1 deficiency
- Niemann–Pick disease
- SMPD1-associated Niemann–Pick disease
- Niemann–Pick disease type C
- Nijmegen breakage syndrome
- North American Indian childhood cirrhosis
O
- Ochronosis
- Oculocutaneous albinism
- Oculocutaneous albinism type I
- Oculodentodigital dysplasia
- Odontoonychodermal dysplasia
- Oguchi disease
- Omenn syndrome
- Opsismodysplasia
- Ornithine aminotransferase deficiency
- Ornithine translocase deficiency
- Orotic aciduria
- Osteoporosis-pseudoglioma syndrome
- Otofaciocervical syndrome
- Otospondylomegaepiphyseal dysplasia
P
- Papillary fibroelastoma
- Papillon–Lefèvre syndrome
- Pascual-Castroviejo syndrome type 1
- Pendred syndrome
- Persistent Müllerian duct syndrome
- Phenylketonuria
- Pipecolic acidemia
- Pontocerebellar hypoplasia
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome
- Posterior column ataxia-retinitis pigmentosa syndrome
- Primary ciliary dyskinesia
- Prolidase deficiency
- Propionic acidemia
- Pseudo-Hurler polydystrophy
- Pseudodominance
- Pseudoxanthoma elasticum
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- Purine nucleoside phosphorylase deficiency
- Pycnodysostosis
- Pyknoachondrogenesis
- Pyruvate carboxylase deficiency
R
- Rabson–Mendenhall syndrome
- Raine syndrome
- RAPADILINO syndrome
- Reardon-Hall-Slaney syndrome
- Refsum disease
- Renal dysplasia-limb defects syndrome
- Renal–hepatic–pancreatic dysplasia
- Reproductive compensation
- Restrictive dermopathy
- Retinal cone dystrophy 3B
- Riboflavin-responsive exercise intolerance
- Roberts syndrome
- Rothmund–Thomson syndrome
- Rotor syndrome
- Ruijs-Aalfs syndrome
S
- Sabinas brittle hair syndrome
- Salla disease
- Salt and pepper syndrome
- Sandhoff disease
- Sanfilippo syndrome
- Sanjad–Sakati syndrome
- Santos–Mateus–Leal syndrome
- Sarcosinemia
- Schimke syndrome
- Schneckenbecken dysplasia
- Sengers syndrome
- Senior–Løken syndrome
- Severe congenital neutropenia
- Short-chain acyl-coenzyme A dehydrogenase deficiency
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- Shwachman–Diamond syndrome
- Sickle cell disease
- Sickle cell trait
- Situs inversus
- Sly syndrome
- Smith–Lemli–Opitz syndrome
- SOFT syndrome
- Sonoda syndrome
- Spastic ataxia-corneal dystrophy syndrome
- SPG15 (disease)
- Spinal muscular atrophy
- Spinal muscular atrophy with progressive myoclonic epilepsy
- Sponastrime dysplasia