RTTN

PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BILATERAL DIFFUSE POLYMICROGYRIA 614833
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BILATERAL DIFFUSE POLYMICROGYRIA
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures 614833
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
Microcephaly, short stature, and polymicrogyria with seizures, 614833, Intellectual disability
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures 614833
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Microcephaly, short stature, and polymicrogyria with seizures, Microcephaly,short stature,and polymicrogyria with seizures,614833, Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures, 614833