225400.4.2

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Country

United Arab Emirates

HPO Terms

Generalized hypotonia; Spindle-shaped finger; Kyphosis; Joint laxity; Wrist drop
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000302.4:c.955C>T2
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Remarks

Sibling of 225400.4.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
225400.4.1United Arab EmiratesGeneralized hypotonia; Dolichocephaly; Spindle-shaped finger; Laryngomalacia; Kyphosis; Joint laxity; Wrist drop; Acetabular dysplasia; Delayed gross motor development; Abnormal myelinationMaleYesYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.