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