erb-b2 receptor tyrosine kinase 4
OMIM: 600543
PanelMode of inheritanceDetails
2 panels
R-numbers: R58
Signed-off version 4.34
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amyotrophic lateral sclerosis 19 OMIM:615515, amyotrophic lateral sclerosis type 19 MONDO:0014223
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
intellectual disability MONDO:0001071