Case: Haagerup II:8

CasePresentingHPOs:

CasePresentingHPOsFreeText: not specified

CaseNOTHPOs:

CaseNOTHPOSFreeText: not specified

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variants: c926T>C and c121-1G>A

ClinVarID: or CAID: ClinVarID: 8426; ClinVarID: 859435

gnomAD: 2/129174 European (non-Finnish) alleles at a frequency of 0.00001548 with no homozygotes; 4/112000 European (non-Finnish) alleles at a frequency of 0.00003571 with no homozygotes

AddCaseInfo:

PreviouslyPublished: no

VariantEvidence: predicted but variant was proven to segregate with disease; predicted to delete all of exon 3