RNU4ATAC

RNA, U4atac small nuclear (U12-dependent splicing)
OMIM: 601428
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, Microcephalic osteodysplastic primordial dwarfism, type I, 210710, MPD, microcephalic primordial dwarfism
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roifman syndrome 616651, Microcephalic osteodysplastic primordial dwarfism, type I 210710