BPTF

bromodomain PHD finger transcription factor
OMIM: 601819
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755, intellectual disability
R-numbers: R88
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755