UFM1

ubiquitin fold modifier 1
OMIM: 610553
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe early-onset encephalopathy with progressive microcephaly,
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy hypomyelinating 14, 617899
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
global developmental delay with progressive microcephaly, Leukodystrophy hypomyelinating 14, 617899, Leukodystrophy, hypomyelinating, 14, 617899
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 14, 617899, microcephaly