Genomics England
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Genes and Entities

ISCA-37425-Loss

5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
macrocephaly, overgrowth and advanced bone age, colpocephaly, Sotos syndrome, macrocephaly, 117550, rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw