204000.16

Saudi Arabia

Intellectual disability; Delayed speech and language development; Blindness; Abnormal facial shape; Seizure; Cerebral atrophy; Atypical behavior

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000180.4:c.2285del	2		Leber Congenital Amaurosis 1