Case#: Patient 1 of family A: Enrolled in study at 16 months, male, DiseaseAssertion:MPS1 FamilyInfo:Consanguinity Yes CasePresentingHPOs: Asthma HP:0002099, Sleep apnea HP:0010535, Multiple joint contractures HP:0002828, Kyphosis HP:0002808, Recurrent ear infections HP:0410018, Coarse facial features HP:0000280, Hepatosplenomegaly (HP:0001433), Inguinal hernia HP:0000023 Corneal opacity (HP:0007957), Joint stiffness (HP:0001387), CaseHPOFreeText: nose/throat infections, aggressive, heavy eye brows, large tongue, thick lips , rough skin CaseNotHPOs: CaseNotHPOFreeText: CaseEnzymeAssay: enzyme values lower than the cut-off values CaseUrineGAGs: NA CaseERT: NA CaseBMT:Nil Variant1:c.1456G>T ,Glu486 Variant1ClinVar ID: 651168 Variant1CAID: Variant2:c.1456G>T ,Glu486 Variant2ClinVarID:651168 Variant2CAID: AdditionalVariants:Nil ParentalGenotype:NA PreviouslyPublishedNA