KIAA1109

PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome 617822
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome, 617822
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome 617822, seizures
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome, OMIM:617822
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome,617822
R-numbers: R36
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alkuraya-Kucinskas syndrome