ARCN1

PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microcephalic dwarfism, Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
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, NOT imprinted
Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164