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| Cerebellar hypoplasia v1.53 | WDR37 |
Dmitrijs Rots gene: WDR37 was added gene: WDR37 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to PMID: 31474318 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome Penetrance for gene: WDR37 were set to Complete Review for gene: WDR37 was set to GREEN gene: WDR37 was marked as current diagnostic Added comment: In PMID: 31474318 found 5 patient with DNM WDR37 variant and cerebellar hypoplasia (see suplements of the paper). Sources: Literature |
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