Cerebellar hypoplasiaGene: WDR37
In PMID: 31474318 found 5 patient with DNM WDR37 variant and cerebellar hypoplasia (see suplements of the paper).
Created: 26 Jul 2021, 7:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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