615282.1

United Arab Emirates

Global developmental delay; Seizure; Intellectual disability; Microcephaly; Autism; Abnormal facial shape

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004801.5:c.1835A>G	1
NM_004522.3:c.404A>G	1		Cortical Dysplasia, Complex, with Other Brain Malformations 2

De novo mutation