CASP2

PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653