UFSP2

UFM1 specific peptidase 2
OMIM: 611482
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poor weight gain, microcephaly, epilepsy, developmental delay, lack of speech, intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Beukes Hip Dysplasia OMIM:142669, hip dysplasia, Beukes type MONDO:0007726, ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974, spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702