Case: Haagerup II:5

CasePresentingHPOs:

CasePresentingHPOsFreeText: not specified

CaseNOTHPOs:

CaseNOTHPOSFreeText: not specified

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variants: c926T>C and c236G>A

ClinVarID: or CAID: ClinVarID: 8426; ClinVarID: 8424

gnomAD: 2/129174 European (non-Finnish) alleles at a frequency of 0.00001548 with no homozygotes; not present in gnomAD

AddCaseInfo:

PreviouslyPublished: no

VariantEvidence: predicted but variant was proven to segregate with disease; no detectable protease activity when analyzed by western blotting (PMID: 10074491)