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Spondyloepiphyseal dysplasia tarda, Kohn type

rare

Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.

Identifiers
MONDO:0010073 OMIM:271620Orphanet:163665
Part of
Spondyloepiphyseal dysplasia tarda
Also known as
Sedt with mental retardation · spondyloepiphyseal dysplasia tarda with mental retardation

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