LSS

lanosterol synthase
OMIM: 600909
PanelMode of inheritanceDetails
2 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cataract 44, 616509
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
Alopecia, Abnormality of the skin, Cataract 44, Hypotrichosis 14, 616509, 618275, Microcephaly, Seizures, Abnormality of the genital system, Hypotonia, Intellectual disability, Global developmental delay