268800.6

Country

United Arab Emirates

HPO Terms

Developmental regression; Failure to thrive; Seizure; Feeding difficulties; Visual loss;

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000521.4:c.826_829del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
268800.5United Arab EmiratesUnknownLow serum hexosaminidase activity
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