272200.2

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Country

United Arab Emirates

HPO Terms

Neurodevelopmental delay; Hepatomegaly; Seizure; Delayed myelination; Heparan sulfate excretion in urine
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_182760.4:c.691dup1
NM_182760.4:c.689A>G1
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.