603272.2

Saudi Arabia

Motor delay; Delayed skeletal maturation; Intellectual disability; Developmental regression; Seizure; Nystagmus; Brain atrophy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_183075.3:c.850T>C	1
NM_006314.3:c.439C>T	1		CNKSR1 Associated Intellectual Disability

Patient has heterozygous variants in CNKSR1 and CYP2U1 gene