COL5A1 and intellectual disability, autosomal recessive: 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.