Consanguinity is reported in a majority of reported families. Bi-allelic variants were homozygous in the majority of reported families and compound-heterozygous in some families. Twenty-two distinct TOR1A variants are identified. The variants are either absent or present, with a very low allele frequency across multiple variant frequency databases, and total allele counts ranged from 0 to 344 per 2 000 000.
TOR1A