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disease: Diaphyseal dysplasia

id1077
nameDiaphyseal dysplasia
descriptionCamurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
variant-disease NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) AND Diaphyseal dysplasia
NM_000660.7(TGFB1):c.653G>A (p.Arg218His) AND Diaphyseal dysplasia
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND Diaphyseal dysplasia
NM_000660.7(TGFB1):c.505G>A (p.Glu169Lys) AND Diaphyseal dysplasia
NM_000660.7(TGFB1):c.667T>A (p.Cys223Ser) AND Diaphyseal dysplasia
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