ISCA-37408-Loss

2p15p16.1 region (includes BCL11A) Loss
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
R-numbers: R88
Signed-off version 5.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies