<unk>  is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibited increased size, as well as dysharmonic skeletal maturation. To date, the molecular mechanism of<unk> , which is also known as Puerto Rican infant hypotonia syndrome, remains unknown.
Qazi–Markouizos syndrome
Zunich–Kaye syndrome
Bannayan–Riley–Ruvalcaba syndrome
Maroteaux–Lamy syndrome
Hapnes Boman Skeie syndrome
Coffin–Siris syndrome
Gerstmann–Sträussler–Scheinker syndrome
Griscelli syndrome type 2