Version: 8.0.0
Date: Tue Jan 28 2025
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
DOID:0081175
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
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Sources of Associations

Associated Genes

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      Associated Models

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