Term Name:	short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Synonyms:
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.
Ontology:	Human Disease [DOID:0081175]   ( DOID:0081175 )