620021.2

Country

United Arab Emirates

HPO Terms

Global developmental delay; Intellectual disability, moderate; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopia; Attention deficit hyperactivity disorder; Bilateral ptosis; Astigmatism; Overlapping toe

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_173791.5:c.894C>G	2		Intellectual Developmental Disorder with Autism and Dysmorphic Facies

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References

Al-Amri et al. 2022