Case 3The 16-year-old presented with no audiovestibular symptoms. Peripheral hearing assessment and screening MRI of brain/spine were normal. Vestibular assessment highlighted covert saccades in the left posterior semicircular canal on vHIT with normal gain. SHIMP showed significant asymmetry (38%) with a weaker right side (Figure 4).
PatientID: N/A (Case 3)
KindredID: 1
Case: Sex Unknown, 16Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Patient’s two younger 9Y0M twin siblings possessed the same VHL variant and had abnormal vestibular assessments.
CasePresentingHPOs: HP:0001756 (Vestibular hypofunction)
CaseHPOFreeText: Following a genetic VHL diagnosis, patient presented with no audiovestibular symptoms. Vestibular assessment highlighted covert saccades in the left posterior semicircular canal on vHIT. Patient also showed signidicant assymmetry with weakness on the right side.
CaseNotHPOs: HP:0009713; HP:0006880 (spinal hemangioblastoma; cerebellar hemangioblastoma)
CaseNotHPOFreeText: peripheral hearing assessment and screening MRI of brain/spine were normal.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: Exon 1-3 Deletion
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: deletion
CivicName: Exon 1-3 Deletion
MultipleGeneVariants: N/A