300672.1

United Arab Emirates

Global developmental delay; Developmental regression; Intellectual disability; Hypertonia; Seizure;

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001323289.2:c.593G>A	1		Epileptic Encephalopathy, Early Infantile, 2

De novo mutation in an X-linked gene. Low-level mosaicism

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
300672.2	United Arab Emirates	Epileptic encephalopathy; Global developmental delay; Hypotonia	Female	No	No	de novo mutation