2 results match your criteria: "Clinical Genomics Redcliffe Labs[Affiliation]"
Expanding the Phenotype of NRROS-Related SENEBAC Syndrome.
Am J Med Genet A
October 2024
Department of Molecular Genetics, Lab Head, Clinical Genomics Redcliffe Labs, New Delhi, India.
Article Synopsis
- Biallelic variants in the NRROS gene are linked to a rare condition called seizures with neurodegeneration and brain calcification (SENEBAC), characterized by severe neurological symptoms.
- Reported here is a new loss-of-function variant (c.720G>A, p.(Trp240*)) in a patient that exhibited developmental regression, severe seizures, and specific brain calcifications.
- The clinical features of the patient included normal early development that regressed, alongside unique symptoms like absent deep tendon reflexes and hypotonia, contributing to the understanding of this syndrome in an Indian child and expanding on previously known cases.
Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.
Clin Dysmorphol
October 2023
Department of Molecular Genetics, Lab head- clinical Genomics Redcliffe Labs, New Delhi, India.