620725.2

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Country

Saudi Arabia

HPO Terms

Joint contracture; Talipes equinovarus; Failure to thrive; Short stature; Microcephaly; Motor delay; Hypotonia; Spasticity; Muscle weakness
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001849.4:c.1332+2T>C2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
620725.1Saudi ArabiaHypotonia; Muscle weakness; Easy fatigability; Exercise intoleranceFemale
620725.3Saudi ArabiaHypotonia; Muscle weakness; Failure to thrive; Short stature; Motor delay; Constipation; Hip contractureMaleYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.