ISCA-37493-Loss

1q43q44 terminal region (includes AKT3) Loss
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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