SVBP

small vasohibin binding protein
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
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569, Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569, Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816