Genomics England
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Panels
Genes and Entities

PDZD8

PDZ domain containing 8
OMIM: 614235
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Autistic behavior, Behavioral abnormality, Myopathy, Abnormality of the face, Hypertelorism, Seizures, Disproportionate tall stature