transmembrane protein 222
PanelMode of inheritanceDetails
1 panel
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
Motor delay, Delayed speech and language development, Intellectual disability, Generalized hypotonia, Broad-based gait, Abnormality of nervous system morphology, Seizures, Microcephaly, Behavioral abnormality