Family#PresentingHPOs: P1: HP:0000943, HP:0008922, HP:0002650, HP:0001537, HP:0020152, HP:0002515, HP:0002808, HP:0007957, HP:0008480, HP:0005180, HP:0002857,HP:0012069, HP:0002870 P2:HP:0001537, HP:0002857, HP:0007957, HP:0005180, HP:6000342, HP:0001385, HP:0000768, HP:0100559, HP:0012069 occipitocervical stenosis, myelomalacia

FamilyNotHPOs:

CountryOrigin:

Ethnicity:

Race:

Family#PreviousTesting:

Family#Method1:

Family#Method2:

Family#GenotypingMethod: unspecified NGS technique followed by GALNS specific Sanger seq of exons and targeted intronic regions

Affected: 2

Unaffected: 2

Segregations:

PublishedLOD:

eLOD:

AddSegregationInfo:

ProbandLabel: DeLong_P1, DeLong_P2

Variant: NM_000512.5(GALNS):c.899-397_1003-1862del

ClinVar: 1048483

CAID: CA2499223751

gnomAD: n/a

FamilyAddInfo:

FamilyPMIDs: