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| Cerebellar hypoplasia v1.53 | AUTS2 |
Dmitrijs Rots gene: AUTS2 was added gene: AUTS2 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AUTS2 were set to PMID: 31474318 Phenotypes for gene: AUTS2 were set to intellectual disability; Cerebellar hypoplasia Penetrance for gene: AUTS2 were set to Complete Review for gene: AUTS2 was set to AMBER Added comment: In PMID: 31474318 found in 2/5 patient with DNM AUTS2 variant and cerebellar hypoplasia (see suplements of the paper). Sources: Literature |
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