Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
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spondyloepiphyseal dysplasia tarda, autosomal dominant
MONDO:0008474
spondyloepiphyseal dysplasia tarda, autosomal recessive
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spondyloepiphyseal dysplasia tarda, X-linked
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spondyloepiphyseal dysplasia tarda with characteristic facies
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spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type
MONDO:0012219