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 |