short stature, hearing loss, retinitis pigmentosa, and distinctive facies (DOID:0081175)
Alliance: disease page
Alt IDs: OMIM:617763, ORDO:494439
Definition: A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.