It is also noteworthy that neither these patients nor ours manifested disruption of COL5A1 at 9q34.3, which is the culprit gene for classic Ehlers-Danlos syndrome and, also, linked to the hypermobility in KS. MAN1B1 deficiency is currently associated with autosomal recessive intellectual disability. This evidence concerns the gene MAN1B1 and intellectual disability, autosomal recessive.