ID Clinical Diagnosis Pedigree information Pedigree information Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings
Parental Consanguinity Sporadic/Familial Gene Nucleic Acid Alteration Genotype Known/Novel ACMG Classification Inheritance Genetic Diagnosis
MPS-12 MPS IV FC Sporadic GALNS Exons 5-8 deletion Homozygous Novel P AR MPS IV
MPS-19 MPS IV FC Sporadic GALNS Exon 5 deletion Homozygous Novel P AR MPS IV
MPS-61 MPS I FC Sporadic IDUA Exons 1-8 deletion Homozygous Novel P AR MPS I
MPS-97 MPS IV FC Sporadic GALNS Exon 5 deletion Homozygous Novel P AR MPS IV
MPS-106 MPS IV FC Familial GALNS Exons 2-4 deletion Homozygous Novel P AR MPS IV
MPS-132 MPS III FC Sporadic HGSNAT Exons 9-10 deletion Homozygous Novel P AR MPS III
MPS-207 MPS FC once removed Sporadic GALNS Exon 13 deletion Homozygous Novel P AR MPS IV
MPS-209 MPS IV SC Sporadic GALNS Exons 1-3 deletion Homozygous Novel P AR MPS IV
MPS-270 MPS II FC once removed Sporadic IDS Whole gene deletion Hemizygous Novel P XLR MPS II