It should be noted that heterozygous missense variants in WASHC5 are associated with autosomal dominant spastic paraplegia 8 (SPG8), a progressive upper‐motor neurodegenerative disease,54 while biallelic pathogenic variants are also associated with Ritscher‐Schinzel Syndrome, a clinically recognizable condition characterized by distinctive craniofacial features, cerebellar defects and cardiovascular malformations.55 Here, WASHC5 is linked to Ritscher-Schinzel syndrome.