225500.2.2

Lebanon

Short stature; Polydactyly; Nail dysplasia; Small, conical teeth; ;

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_147127.5:c.2012_2015delTAAT	2		Ellis-van Creveld Syndrome

First cousin of 225500.2.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
225500.2.1	Lebanon	Short stature; Polydactyly; Short ribs; Short lower limbs;	Male	Yes	Yes	Had a deceased brother born with polydactyly and cleft lip and palate