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 )

Relationships
is a type of: autosomal recessive disease syndrome