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- Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI. (en)
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- 3977 (xsd:nonNegativeInteger)
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- Spondyloperipheral dysplasia has an autosomal dominant pattern of inheritance. (en)
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- Spondyloperipheral dysplasia (en)
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- Spondyloperipheral dysplasia-short ulna syndrome (en)
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- Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI. (en)
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- Spondyloperipheral dysplasia (en)
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- Spondyloperipheral dysplasia (en)
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