Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.
A 32-year-old male with Woodhouse Sakati syndrome (MIM 241080) is described. Two of the proband's brothers also have diabetes mellitus and similar facial features, however they are not dysarthric. An affected older brother died of an unknown cause at age 30. This confirms autosomal recessive inheritance.
Gül
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D
Ozata
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M
Mergen
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H
Odabaşi
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Z
Mergen
M
M
D000328:Adult; D000505:Alopecia / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D004401:Dysarthria / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male