NEUROD1

neuronal differentiation 1
OMIM: 601724
PanelMode of inheritanceDetails
2 panels
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Permanent neonatal diabetes and cerebellar agenesis, Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus, Maturity-onset diabetes of the young 6, 606394
R-numbers: R141
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Maturity-onset diabetes of the young 6, 606394, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6, {Diabetes mellitus, noninsulin-dependent}, 125853, Maturity-Onset Diabetes Of The Young, MODY6, Permanent neonatal diabetes and cerebellar agenesis, Maturity Onset Diabetes of the Young