Fig. 1.
Individuals with biallelic NALCN variants. a, b Individual 1 at the age of 11 7/12 years presenting with long face, high forehead, strabismus, fine hair and large ears. c, d Individual 3 at the age of 3 10/12 years displaying hypotonic facies, high forehead, strabismus, sparse hair, and large ears. e and f individual 4 at the age of 3 6/12 years (e) and 4 6/12 years (f) showing fine hair and facial hypotonia (open-mouth appearance). g Individual 5 at the age of 3 years also displaying fine hair and facial hypotonia (open-mouth appearance). h, i Individual 14 at the age of 4 years with high forehead, deep-set eyes, and thin upper lip vermillion. j Individual 15 at the age of 2 9/12 years presenting with long face, fine hair, strabismus, and thin upper lip vermillion. k, l Individual 17 at the age of 3 years showing facial hypotonia, triangular face with high forehead, deep-set eyes, and large ears