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short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Summary
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0081175
- Mondo Disease Ontology
- ORDO
- OMIM
