<unk> 1 is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder (GLE1) is located on an autosome (chromosome 9), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Population genetics<unk> 1 belongs to Finnish heritage of diseases and cases have been confirmed until now (2009) only in Finland. The prevalence is 1 in 25000 births. The carrier frequency is 1% in whole Finland and 2% in North-Eastern part of Finland where the birthplaces of ancestors of affected individual show clustering. Mapping Mäkelä-Bengs et al. (1997,1998) performed a genome-wide screening and linkage analysis and assigned the<unk>  locus to a defined region of 9q34.
Lethal congenital contracture syndrome
Spastic cerebral palsy
Two feet-one hand syndrome
Cernunnos deficiency
Cerebral palsy
Congenital muscular dystrophy
Norman–Roberts syndrome
Congenital distal spinal muscular atrophy