604317.1

Saudi Arabia

Lissencephaly; Colpocephaly; Spasticity; Seizure; Abnormality of neuronal migration

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001083961.2:c.3012_3034dup	2		Microcephaly 2, Primary, Autosomal Recessive, with or without Cortical Malformations