OBO ID: DOID:0081175 |
Term Name: | short stature, hearing loss, retinitis pigmentosa, and distinctive facies | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0081175 ) |
OTHER short stature, hearing loss, retinitis pigmentosa, and distinctive facies PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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