NEUROD1

neuronal differentiation 1
OMIM: 601724
PanelMode of inheritanceDetails
3 panels
R-numbers: R143
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192, Maturity-onset diabetes of the young 6, OMIM:606394, Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
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
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes