RNF13

ring finger protein 13
OMIM: 609247
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cortical visual impairment, Failure to thrive, Seizures, Congenital microcephaly, Epileptic encephalopathy, early infantile, 73, Abnormal muscle tone, Feeding difficulties, Intellectual disability, Global developmental delay, Sensorineural hearing impairment
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, imprinted status unknown
Phenotypes
Cortical visual impairment, Epileptic encephalopathy, early infantile, 73, 618379, Failure to thrive, Seizures, Congenital microcephaly, Abnormal muscle tone, Feeding difficulties, Intellectual disability, Global developmental delay, Sensorineural hearing impairment