short stature, hearing loss, retinitis pigmentosa, and distinctive facies

Term ID

DOID:0081175

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. (2)

References

• MIM:617763
• ORDO:494439

Ontology

Human Disease   ( DOID:0081175 )