Hypothesis

2 Matching Annotations

Jul 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

1
1. 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
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SupplementalData: Comparison of Phenotypes (Table 1)\

Zygosity:Homozygosity

ExperimentalAssay:Autofluorescence

hgnc_imputed:na

Case#: Younger sister,Female,Onset at 9 yo

InheritancePattern: AutosomalRecessive

CaseNotHPOs: n/a

ClinGen ABCA4 Annotations

Annotators

Vibhor

URL

pmc.ncbi.nlm.nih.gov/articles/PMC8123746/
Feb 2026
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

1
1. conrodriguez 19 Feb 2026
  
  in Public
  
  data
  
  n/a
  
  CaseNotHPOs
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CaseNotHPOs

Annotators

conrodriguez

URL

pmc.ncbi.nlm.nih.gov/articles/PMC8034119/