251110.1

Country

United Arab Emirates

HPO Terms

Hypotonia; Global developmental delay; Scoliosis; Short stature
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_052845.4:c.197-1G>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
251110.2United Arab EmiratesMethylmalonic aciduria; HyperammonemiaUnknown
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