ISCA-37493-Loss

1q43q44 terminal region (includes AKT3) Loss
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, seizures, agenesis of the corpus callosum, intellectual disability, hand and foot anomalies, 612337, non-specific craniofacial anomalies, hypoplasia, psychomotor retardation, hypogenesis of the corpus callosum
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
microcephaly, seizures, agenesis of the corpus callosum, intellectual disability, hand and foot anomalies, 612337, non-specific craniofacial anomalies, hypoplasia, psychomotor retardation, hypogenesis of the corpus callosum