617781.10.1

Saudi Arabia

Visual impairment; Nystagmus; Global developmental delay; Cone-shaped epiphyses of the phalanges of the hand; Short finger;

Male

Yes

Yes

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

Relative of 617781.10.2

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617781.10.2	Saudi Arabia	Visual impairment; Nystagmus; Global developmental delay; Eye poking	Female	Yes	Yes	Relative of 617781.10.1