ISCA-37500-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green ISCA-37500-Loss Region in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • mild to moderate cognitive deficit
    • Diamond-Blackfan anemia
    • intellectual disability
    • 614294
    • anemia
    • congenital diaphragmatic hernia
    • cryptorchidism in males
    • severe speech and psychomotor delay
    • mental retardation
    • postnatal short stature
    • behavioral problem
    • mild dysmorphic feature
    • developmental delay