KIAA1109

PanelMode of inheritanceDetails
7 panels
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome 617822
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome 617822, seizures
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome, 617822
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome, OMIM:617822
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome,617822
R-numbers: R36
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome