1. Genes and Genomic Entities
  2. ISCA-37421-Loss

ISCA-37421-Loss

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ISCA-37421-Loss Region in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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
    • dysmorphic features
    • 612474
    • Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts
    • mild to moderate developmental delay