OBO ID: DOID:0060225 |
Term Name: | 3MC syndrome | Search Ontology: | |
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Definition: | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. https://www.ncbi.nlm.nih.gov/pubmed/16096999 | ||
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Ontology: | Human Disease ( DOID:0060225 ) |
OTHER 3MC syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS (3)
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