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| Cerebellar hypoplasia v1.53 | PDGFRB |
Dmitrijs Rots gene: PDGFRB was added gene: PDGFRB was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to PMID: 31474318 Phenotypes for gene: PDGFRB were set to Cerebellar hypoplasia Penetrance for gene: PDGFRB were set to Complete Review for gene: PDGFRB was set to GREEN Added comment: In PMID: 31474318 found 4 patients with DNM variants and cerebellar hypoplasia, and additionally summarized another 1 from the literature (see suplements of the paper). Sources: Literature |
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