Table 1

Summary of clinical features in three individuals heterozygous for KCTD15 missense variants

	Family 1, II-1	Family 1, III-1	Family 2, II-1
Sex	Male	Female	Female
Histological classification of frontonasal mass	Macroscopically lipoma	Lipoma	Hamartoma
Hypertelorism	Present	Present	Present
Nose	Small nasal tip, short columella	Nasal tip encroached by lipoma	Small nasal tip, short columella
Anosmia	Present	Present	Normal sense of smell
Scalp	Thin hair, balding	Cutis aplasia	Thin, fair hair
Nipples	Normal	Normal	Normal
Congenital heart disease	Tetralogy of Fallot	Patent ductus arteriosus	Not present
Other	Nystagmus, congenital urethral stricture, unilateral renal scarring, dry shiny skin over hands; mild shortening 4th and 5th digits of toes	Tongue-tie, normal extremities	Convergent strabismus, unilateral hearing loss, coeliac disease, 2–3 toe syndactyly