616948.1

Saudi Arabia

Motor delay; Delayed speech and language development; Intellectual disability; Failure to thrive; Abnormal facial shape; Hippocampal malrotation

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_144992.5:c.655G>T	2		Spinocerebellar Ataxia, Autosomal Recessive 22