Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001238:Asphyxia Neonatorum / Q000150:complications; D001766:Blindness / Q000150:complications; D002648:Child; D002675:Child, Preschool; D004613:Ellis-Van Creveld Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000002:abnormalities*; D013909:Thorax / Q000002:abnormalities*; D014792:Visual Acuity