272200.1.1

Country

Lebanon

HPO Terms

Oligohydramnios; Intrauterine growth retardation; Profound global developmental delay; Ichthyosis; Neurodegeneration; Abnormality of the skeletal system; Corneal opacity; Tracheomalacia; Hearing impairment; Hernia; Death in childhood

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Sex

Male

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_182760.4:c.1045C>T	1		Multiple Sulfatase Deficiency
NM_182760.4:c.706C>T			Multiple Sulfatase Deficiency

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Remarks

The patient had a late-infantile severe disease course with a fast disease progression.

References

Sabourdy et al, 2015