616211.5 - CAGS

616211.5

Country

United Arab Emirates

HPO Terms

Neonatal respiratory distress; Feeding difficulties; Clonic seizure; Talipes equinovarus; Hearing impairment; Spasticity; Patent ductus arteriosus; Patent foramen ovale; Polymicrogyria; Dysplastic corpus callosum; Global developmental delay; Abnormal facial shape

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016373.4:c.606-1G>A	2		Developmental and Epileptic Encephalopathy 28

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References

Alabdullatif et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616211.2	United Arab Emirates	Seizure; Infantile spasms; Spasticity; Global developmental delay; Failure to thrive; Dysphagia	Male	No	Yes

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.