602113.1.1

Palestine

Choanal atresia; Lacrimal duct aplasia; Conductive hearing impairment; Hypoplastic nipples; Thyroid hypoplasia

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003482.3:c.10658G>T	1		Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, and Hypothyroidism Syndrome

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
602113.1.2	Palestine	Abnormal facial shape; Choanal atresia; Hypoplastic nipples; Thyroid agenesis	Female	Yes	Yes	Sibling of 602113.1.1
602113.1.3	Palestine		Male	Yes		Father of 602113.1.1. Paternal mosaicism of variant suspected