transformation/transcription domain associated protein
OMIM: 603015
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Microcephaly, Seizures, Abnormal heart morphology, Autism, Developmental delay with or without dysmorphic facies and autism, 603015, Intellectual disability, Abnormality of the urinary system, Global developmental delay