606854.G.1

Syria

Intellectual disability, severe; Seizure; Limb hypertonia; Mental deterioration; Hearing impairment; Cerebral atrophy

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_201525.4:c.64+5G>A	6		Polymicrogyria, Bilateral Frontoparietal

3 members of a family