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General Information
ZIRC
OBO ID: DOID:0060225
Term Name: 3MC syndrome Search Ontology:
Synonyms:
  • craniofacial-ulnar-renal syndrome
  • oculopalatoskeletal syndrome
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
References:
Ontology: Human Disease   (DOID:0060225)
OTHER 3MC syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)