NCDN:Ensemblv90

neurochondrin
OMIM: 608458, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NCDN in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373

Green NCDN in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373

    Green NCDN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373

    Green NCDN in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373