613610.1.1

Saudi Arabia

Strabismus; Renal insufficiency; Hepatic fibrosis; Global developmental delay; Depressed nasal bridge; Cerebellar atrophy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020779.4:c.206G>A	2	NA	Cranioectodermal Dysplasia 2
NM_001013663.2:c.365G>A	2		Intellectual Deficiency, Autosomal Recessive, Unclassified

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613610.1.2	Saudi Arabia	Strabismus; Renal insufficiency; Hepatic fibrosis; Global developmental delay	Female	Yes	Yes	Sister of 613610.1.1
613610.1.3	Saudi Arabia		Male			Father of 613610.1.1
613610.1.4	Saudi Arabia		Female			Mother of 613610.1.1