21-hydroxylase deficiency
Dominant
Recessive
Spondyloepiphyseal dysplasia congenita
Dominant
Recessive
Snyder–Robinson syndrome
Dominant
Recessive
Norman–Roberts syndrome
Dominant
Recessive
Osteogenesis imperfecta
Dominant
Recessive
Usher syndrome
Dominant
Recessive
Marfan syndrome
Dominant
Recessive
Xeroderma pigmentosum
Dominant
Recessive
Williams syndrome
Dominant
Recessive
Pipecolic acidemia
Dominant
Recessive
Homocystinuria
Dominant
Recessive
Camptodactyly-taurinuria syndrome
Dominant
Recessive
Chédiak–Higashi syndrome
Dominant
Recessive
Gerstmann–Sträussler–Scheinker syndrome
Dominant
Recessive
Zellweger syndrome
Dominant
Recessive
Hemochromatosis type 5
Dominant
Recessive
Juvenile-onset dystonia
Dominant
Recessive
Phenylketonuria
Dominant
Recessive
Malignant hyperthermia
Dominant
Recessive
Amish lethal microcephaly
Dominant
Recessive
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