HED2 is suspected after infancy on the basis of physical features in most affected individuals. GJB6 is the only gene known to be associated with HED2. Targeted mutation analysis for the four most common GJB6 mutations is available on a clinical basis and detects mutations in approximately 100% of affected individuals. Sequence analysis is also available on a clinical basis for those in whom none of the four known mutations is identified.
Clouston's hidrotic ectodermal dysplasia
Sabinas brittle hair syndrome
Daentl Townsend Siegel syndrome
Dunnigan familial partial lipodystrophy
Weismann-Netter–Stuhl syndrome
Simpson–Golabi–Behmel syndrome
Yemenite deaf-blind hypopigmentation syndrome
Coffin–Siris syndrome