No abstract available
MeSH terms
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Abnormalities, Multiple / etiology*
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Abnormalities, Multiple / pathology
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Blepharophimosis / etiology*
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Blepharophimosis / pathology
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Blepharoptosis / etiology*
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Blepharoptosis / pathology
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Child, Preschool
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Chromosomes, Human, X / genetics*
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Female
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Genetic Diseases, X-Linked / etiology*
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Genetic Diseases, X-Linked / pathology
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Heart Defects, Congenital / etiology*
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Heart Defects, Congenital / pathology
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Humans
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Intellectual Disability / etiology*
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Intellectual Disability / pathology
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Mediator Complex / genetics*
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Mutation*
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Prognosis
Substances
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MED12 protein, human
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Mediator Complex
Supplementary concepts
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Blepharophimosis syndrome Ohdo type