PUS7

pseudouridylate synthase 7 (putative)
OMIM: 616261
PanelMode of inheritanceDetails
2 panels
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
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342, Short stature, Microcephaly, Intellectual disability, Behavioral abnormality
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, OMIM:618342