|OBO ID: DOID:0081175|
|Term Name:||short stature, hearing loss, retinitis pigmentosa, and distinctive facies||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0081175)|
|is a type of:||
OTHER short stature, hearing loss, retinitis pigmentosa, and distinctive facies PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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