SMPD4

sphingomyelin phosphodiesterase 4
OMIM: 610457
PanelMode of inheritanceDetails
2 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
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
cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis