ID Clinical Diagnosis Pedigree information Pedigree information Pedigree information Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings Genetic Findings
Parental Consanguinity Sporadic/Familial Inheritance Gene Nucleic Acid Alteration Amino Acid Alteration RefSeq 1 (NM) Coding Impact Genotype Known/Novel ACMG Classification Genetic Diagnosis
IEM-1 MPS FC Sporadic AR NEU1 c.727G>A p.Gly243Arg NM_000434.3 Missense Homozygous Known P Sialidosis I/II
IEM-2 MPS IV FC once removed Familial AR GNPTG c.426del p.Cys142fs NM_032520.4 Frameshift deletion Homozygous Novel LP Mucolipidosis III gamma
IEM-3 MPS II FC Sporadic AR GNPTAB c.1212C>G p.Tyr404Ter NM_024312.4 Nonsense Homozygous Known P Mucolipidosis II/III alpha/beta
IEM-4 MPS II FC Sporadic AR L2HGDH c.1015delA p.Arg339fs NM_024884.2 Frameshift deletion Homozygous Known P L-2-Hydroxyglutaric Aciduria
IEM-5
MPS IV
NC
Sporadic
AR
CTSA
c.1090G>A c.1396G>A p.Val364Met p.Ala466Thr NM_000308.2 NM_000308.2 Missense Missense Heterozygous Heterozygous Novel Novel LP VUS
Galactosialidosis