1. Genes and Genomic Entities
  2. ISCA-37400-Loss

ISCA-37400-Loss

1 panel

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


Level 2: Developmental disorders
Version 9.370
Latest signed off version: v9.0 (30 Apr 2025)

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