MSMO1

methylsterol monooxygenase 1
OMIM: 607545
PanelMode of inheritanceDetails
5 panels
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis), Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
R-numbers: R88
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793