SCRIB and craniorachischisis: SCRIB mutations have previously been implicated in human craniorachischisis.40 Three samples carried more than 1 variant within the same gene: sample 01F292 had 2 rare FAT4 variants (c.739C>A; c.6607C>T), f11‐278 had 1 novel (c.8335C>G) and 1 rare (c.5587C>T) variants in CELSR3 and 693F06 had 2 rare missense variants (c.3109G>C; c.824G>A) in NOS2.