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| Stickler syndrome v2.9 | COL2A1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 |
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| Stickler syndrome v2.9 | COL2A1 | Ivone Leong Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 to Stickler syndrome, type I, OMIM:108300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.8 | COL2A1 | Ivone Leong Publications for gene: COL2A1 were set to PMID: 16752401; 20513134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||