XYLT1_DBQD2_GGC

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green XYLT1_DBQD2_GGC STR in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.88

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2 MIM#615777

    Green XYLT1_DBQD2_GGC STR in Mendeliome


    Version 1.4851

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Desbuquois dysplasia 2 MIM#615777
    Tags
    • paediatric-onset

    Green XYLT1_DBQD2_GGC STR in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2 MIM#615777

    Green XYLT1_DBQD2_GGC STR in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.444

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Desbuquois dysplasia 2 MIM#615777

    Green XYLT1_DBQD2_GGC STR in Repeat Disorders


    Version 0.272

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Desbuquois dysplasia 2 MIM#615777
    Tags
    • paediatric-onset