224900.1.1

Lebanon

Sparse hair; Aplasia/Hypoplasia of the sweat glands; Hypodontia; Hyperconvex nail; Palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the breasts ;

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_022336.3:c.803+1G>A	2		Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
224900.1.2	Lebanon		Female			Mother of 224900.1.1
224900.1.3	Lebanon		Female			Father of 224900.1.1