Genetic Diseases and Disorders Codexery
A source-cited reference to genetic diseases and disorders
Genetic diseases and disorders
2q37 monosomy · ACDC (medicine) · Acrofrontofacionasal dysostosis · Acromesomelic dysplasia · Acyl-CoA oxidase deficiency · AFF2 · Aicardi–Goutières syndrome · Alternating hemiplegia · Alternating hemiplegia of childhood · Ampola syndrome · Arginine:glycine amidinotransferase deficiency · Aromatic L-amino acid decarboxylase deficiency · Arthrogryposis multiplex with deafness, inguinal hernias, and early death · Atelosteogenesis type I · Autophagic vacuolar myopathy · Autosomal dominant cerebellar ataxia, deafness, and narcolepsy · Autosomal dominant CTLA‐4 haploinsufficiency with autoimmune infiltration · Autosomal dominant partial epilepsy with auditory features · Autosomal dominant porencephaly type I · Autosomal recessive axonal neuropathy with neuromyotonia · Bachmann–Bupp syndrome · Benign hereditary chorea · Bent bone dysplasia syndrome · Bifid nose · all 29 →