spondyloepiphyseal dysplasia tarda, Kohn type
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019667
spondyloepiphyseal dysplasia tarda
is_a
Sedt with mental retardation
related
spondyloepiphyseal dysplasia tarda with mental retardation
related