604317.2.1

Saudi Arabia

Pachygyria; Intellectual disability; Strabismus; Ataxia; Hypotonia; Abnormality of neuronal migration

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001083961.2:c.193G>A	2		Microcephaly 2, Primary, Autosomal Recessive, with or without Cortical Malformations