WDR81

WD repeat domain 81
OMIM: 614218
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967, Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185, Congenital hydrocephalus 3 with brain anomalies, 617967
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
cerebellar ataxia, intellectual disability and quadrupedal locomotion, Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185