WDR45B

WD repeat domain 45B
OMIM: 609226
PanelMode of inheritanceDetails
3 panels
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations., Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION