135900.1

Country

United Arab Emirates

HPO Terms

Mucopolysacchariduria; Intellectual disability; Global developmental delay; Attention deficit hyperactivity disorder; Macrocephaly; Partial agenesis of the corpus callosum

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Sex

Female

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017519.3:c.5080C>T	1		Coffin-Siris Syndrome 1

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Remarks

de novo mutation

References

Al-Shamsi et al. 2016;
Saleh et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
135900.2	United Arab Emirates	Global developmental delay; Intellectual disability; Failure to thrive; Acute encephalopathy; Hypoglycemia; Metabolic acidosis	Female	No	No	de novo mutation