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| Cerebellar hypoplasia v1.53 | L1CAM |
Dmitrijs Rots gene: L1CAM was added gene: L1CAM was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: L1CAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: L1CAM were set to PMID: 3147431 Phenotypes for gene: L1CAM were set to Cerebellar hypoplasia Penetrance for gene: L1CAM were set to Complete Review for gene: L1CAM was set to GREEN gene: L1CAM was marked as current diagnostic Added comment: In PMID: 31474318 found 3 patient with DNM variant and cerebellar hypoplasia, and additionally summarized another 13 from the literature (see suplements of the paper). Sources: Literature |
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