Case#: Family 1 proband, male, 6yo at onset, Chinese

DiseaseAssertion: CORD

FamilyInfo: heterozygous unaffected parents

CasePresentingHPOs: HP:0000613, HP:0000505, HP:0007401, HP:0012511, HP:0008043, HP:0000512

CaseHPOFreeText:  ERG responses from cones reduced, BVA=0.20/0.15

CaseNotHPOs:

CaseNotHPOFreeText:

PreviouslyPublished: n/a

Variant: c.[1957C>T];[4604dup] phase confirmed

ClinVar: n/a

CAID: CA645372205

SupplementalData: