Case#: Patient 2662, northern European origin, 11 years old (age of diagnosis), 22 years old (age at report), male, attended special schools until 15 years old, has not attained the ability to read and write, and has an increasingly poor memory.

DiseaseAssertion: MPS-1H/S, intermediate

FamilyInfo: Two affected younger sisters with MPS1 who presumably have the same R89Q/1060+2t-*-c genotype. he youngest sister died of bronchopneumonia at 22 mo of age. His second sister presented at 2 years and 6 mo of age with good general health, apart from upper respiratory tract infection, coarse facial features, enlarged liver and spleen, and limitation of elbow extension. This sister is now 20 years of age, has coarse facial features and joint limitations, is obese, and has a short stature. She is "bright" and able to live in her own flat with visiting help.

CasePresentingHPOs: Intellectual disability, memory impairment, limited motor development, severe joint contractures, short stature, obesity, macrocephaly, coarse facial features, hearing impairment, visual impairment (HP:0001249, HP:0002354, HP:0002194, HP:0002828, HP:0004322, HP:0001513, HP:0000256, HP:0000280, HP:0000365, HP:0000505)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Fibroblasts with two monoclonal antibodies detected 7%-10% of the normal levels of IDUA protein compared with only 1.5% of IDUA protein in a R89Q/W402X compound heterozygote

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.266G>A (p.R89Q)

Variant1ClinVarID: 11922

Variant1CAID: CA256124

Variant2: c.972+2T>C (1060+2T>C)

Variant2ClinVarID: N/A

Variant2CAID: CA355962890

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A