PRUNE1

prune exopolyphosphatase 1
OMIM: 617413
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 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481, NMIHBA, Complex neurological syndrome
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, spasticity, developmental delay