616268.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Intellectual disability; Attention deficit hyperactivity disorder; Delayed speech and language development; Atrial septal defect

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Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001305878.1:c.2378del	1		Arboleda-Tham Syndrome

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Remarks

Father and siblings similarly affected

References

Saleh et al. 2021