The proband, a male child with several siblings (GC20578) born to Somali parents, initially presented several years earlier with horizontal nystagmus and intermittent convergent squint
Case#: GC20578
PresentingHPOs:HP:0000666, HP:0000486, HP:0000540, HP:0001103
PresentingHPOsText: Horizontal nystagmus, strabismus, difficulties with near vision, bilateral central macular disturbance.
CaseNotHPOs: HP:0007642, HP:0031605
CaseNotHPOsText: No night blindness, no fundus abnormalities
CasePreviousTesting: "Previous extensive genetic testing results were negative"
CaseGenotypingMethod1: WES
CaseGenotypingMethod1: Confirmed by bidirectional Sanger sequencing.
Variant: NM_002075.3: c.124C>T (p.Arg42Ter), homozygous
ClinVar: Not in ClinVar
CAID: CA6417419
gnomAD: Pop max MAF 0.00006706 (Latino). No homozygotes.