Case 1Nine years old, Twin 1 presented with no audiovestibular symptoms. Peripheral hearing assessment and screening MRI of brain/spine were normal. Vestibular assessment highlighted an abnormal cVEMP showing a left-sided weakness (42% asymmetry, Figure 2).
PatientID: N/A (Case 1)
KindredID: 1
Case: Sex Unknown, 9Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Patient’s twin and 16Y0M sibling 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 an abnormal cVEMP showing a left-sided weakness.
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