ISCA-37431-Loss

17q11.2 recurrent region (includes NF1) Loss
PanelMode of inheritanceDetails
2 panels
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
dysmorphic features, cardiac anomalies and mental retardation, 613675, variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors, NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME, NF1 MICRODELETION SYNDROME, Chromosome 17q11.2 deletion syndrome, 1.4Mb
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
dysmorphic features, cardiac anomalies and mental retardation, 613675, variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors, NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME, NF1 MICRODELETION SYNDROME, Chromosome 17q11.2 deletion syndrome, 1.4Mb