615574.4.1

Country

United Arab Emirates

HPO Terms

Seizure; Microcephaly; Severe global developmental delay; Absent speech; Intellectual disability; Delayed gross motor development; Hyperactivity; Self-injurious behavior; Oral-pharyngeal dysphagia; Reduced visual acuity

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001673.4:c.146G>A	2		Asparagine Synthetase Deficiency

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References

Sacharow et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615574.4.2	United Arab Emirates	Seizure; Moderate global developmental delay; Unsteady gait; Ichthyosis; Paronychia	Female	Yes	Yes	Sister of 615574.4.1