Boudhina Yedes Khiari syndrome
MONDO:0022020
Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions
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No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
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Boudhina–Yedes–Khiari syndrome
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. 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.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.