What are some examples of autosomal recessive diseases? Acromatopsia, a rare autosomal recessive disease also known as total color blindness or da...
What are some examples of autosomal recessive diseases?
Acromatopsia, a rare autosomal recessive disease also known as total color blindness or daytime blindness.
Hereditary hemochromatosis, an autosomal recessive disorder characterized by the accumulation of iron in affected individuals.
Hypophosphatasia or vitamin D-dependent rickets, an early-onset hereditary disease of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformities and moderate hypophosphatemia.
Ellis-van Creveld syndrome.
Acromatopsia, a rare autosomal recessive disease also known as total color blindness or daytime blindness.
Hereditary hemochromatosis, an autosomal recessive disorder characterized by the accumulation of iron in affected individuals.
Hypophosphatasia or vitamin D-dependent rickets, an early-onset hereditary disease of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformities and moderate hypophosphatemia.
Ellis-van Creveld syndrome.
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Algumas doenças autossômicas recessivas incluem: - Fibrose cística - Anemia falciforme - Doença de Tay-Sachs - Fenilcetonúria - Atrofia muscular espinhal - Doença de Niemann-Pick - Doença de Gaucher - Síndrome de Alport - Síndrome de Lesch-Nyhan - Síndrome de Sanfilippo Acromatopsia, hemocromatose hereditária, hipofosfatasia e síndrome de Ellis-van Creveld também são exemplos de doenças autossômicas recessivas.
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