OBO ID: DOID:0081175
Term Name: short stature, hearing loss, retinitis pigmentosa, and distinctive facies Search Ontology:
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:
Ontology: Human Disease   (DOID:0081175)
OTHER short stature, hearing loss, retinitis pigmentosa, and distinctive facies PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EXOSC2 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies 617763
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None