Английская Википедия:Boudhina-Yedes-Khiari syndrome

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Boudhina Yedes Khiari syndrome is a very rare neurocutaneous genetic disorder which is characterized by short stature, microcephaly, intellectual disabilities, tendency to have seizures, hearing loss and skin lesions.[1][2] This disorder was first discovered in the summer of 1990 in Paris, France by T Boudhina et al., when three sisters were described as sharing the symptoms mentioned above, these symptoms were also found to have a high prevalence within their family afterwards. The suspected mode of inheritance is autosomal recessive.[3]

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