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| Term | 3MC syndrome | ID (Ontology) | DOID:0060225 (Human Disease) |
| 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. | ||
| Also Known As | "craniofacial-ulnar-renal syndrome" ; "oculopalatoskeletal syndrome" | ||
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| 3MC syndrome 13 rec. |__3MC syndrome 1 2 rec. |__3MC syndrome 2 1 rec. |__3MC syndrome 3 11 rec. |
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autosomal recessive disease syndrome |
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GARD:1118 ICD10CM:Q87.8 MIM:PS257920 ORDO:293843 |
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