Vibhor 12 Jul 2026 in exploring_annotations 20 years Age of onset 3 years 9 years Case#: Younger sister,Female,Onset at 9 yo InheritancePattern: AutosomalRecessive Zygosity:Homozygosity SupplementalData: Comparison of Phenotypes (Table 1)\ CaseNotHPOs: n/a ExperimentalAssay:Autofluorescence ClinGen ABCA4 Annotations hgnc_imputed:na