Cerebellar hypoplasiaGene: L1CAM
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).
Created: 26 Jul 2021, 7:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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