The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence.
[ncbi.nlm.nih.gov]
[…] facies, and normal intelligence.
[uniprot.org]
[…] disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal
[uniprot.org]