ISCA-37400-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-37400-Loss Region in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.453
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • seizures
    • intellectual disability
    • Chiari malformations
    • cerebellar ectopia
    • 611913
    • mental retardation
    • Macrocephaly
    • developmental delay
    • autism spectrum disorder (ASD)
    • vertebral anomalies