Johanson-Blizzard syndrome with normal intelligence.
We report a brother and sister with apparent Johanson-Blizzard syndrome and normal intelligence. There is a wide range of intellectual abilities of persons with Johanson-Blizzard syndrome. No phenotypic predictors of ultimate intellectual function were found in the literature.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000523:psychology; D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000002:abnormalities*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D007360:Intelligence; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009666:Nose / Q000002:abnormalities*; D009748:Nutrition Disorders / Q000235:genetics