Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.
D001238:Asphyxia Neonatorum / Q000150:complications* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D013896:Thoracic Diseases / Q000150:complications* / Q000235:genetics