614399.1

Country

United Arab Emirates

HPO Terms

Polyhydramnios; Generalized hypotonia; Neonatal respiratory distress; Feeding difficulties; Distal arthrogryposis; Myopathy; Global developmental delay; Patent ductus arteriosus; Patent foramen ovale

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001256545.2:c.1557del	2		Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset

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References

Alabdullatif et al. 2017