602867.1

Country

United Arab Emirates

HPO Terms

Pulmonic stenosis; Delayed speech and language development; Elevated hepatic transaminase; Autistic behavior; Failure to thrive; Intellectual disability

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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_001553.3:c.830-1G>A	2		Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis

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Remarks

Similarly affected sister

References

Saleh et al. 2021