SMPD4

sphingomyelin phosphodiesterase 4
OMIM: 610457
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental Disorder with Microcephaly and Congenital Arthrogryposis
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622, Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838
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
cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis