616632.2

United Arab Emirates

Seizure; Microcephaly; Trigonocephaly; Visual impairment; Hypotonia; Global developmental delay; Cerebral cortical atrophy

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005219.5:c.3145C>T	2		Seizures, Cortical Blindness, and Microcephaly Syndrome