617781.9

Saudi Arabia

Visual impairment; Nystagmus; Global developmental delay; Eye poking; Cone-shaped epiphyses of the phalanges of the hand;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014714.4:c.1990G>A	2		Retinitis Pigmentosa 80

The patient had two similarly affected female relatives.