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| Cerebellar hypoplasia v1.53 | FOXP1 |
Dmitrijs Rots gene: FOXP1 was added gene: FOXP1 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXP1 were set to PMID: 31474318 Phenotypes for gene: FOXP1 were set to Mental retardation with language impairment and with or without autistic features Penetrance for gene: FOXP1 were set to Complete Review for gene: FOXP1 was set to GREEN gene: FOXP1 was marked as current diagnostic Added comment: In PMID: 31474318 found 11 patient with DNM AHDC1 variant and cerebellar hypoplasia (see suplements of the paper). Sources: Literature |
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| Cerebellar hypoplasia v1.53 | BCL11A |
Dmitrijs Rots gene: BCL11A was added gene: BCL11A was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BCL11A were set to PMID: 31474318 Phenotypes for gene: BCL11A were set to intellectual disability; Cerebellar hypoplasia Penetrance for gene: BCL11A were set to Complete Review for gene: BCL11A was set to GREEN Added comment: In PMID: 31474318 found 3 patient with DNM AHDC1 variant and cerebellar hypoplasia, and additionally summarized another 9 from the literature (see suplements of the paper). Sources: Literature |
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| Cerebellar hypoplasia v1.53 | AHDC1 |
Dmitrijs Rots gene: AHDC1 was added gene: AHDC1 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AHDC1 were set to PMID: 31474318 Phenotypes for gene: AHDC1 were set to intellectual disability; Cerebellar hypoplasia Penetrance for gene: AHDC1 were set to Complete Review for gene: AHDC1 was set to GREEN Added comment: In PMID: 31474318 found one patient with DNM AHDC1 variant and cerebellar hypoplasia, and additionally summarized another 4 from the literature (see suplements of the paper). Sources: Literature |
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