Article

Patient and family reported clinical picture of <i>IRF2BPL</i> -related disorders

2026-03-09

Abstract excerpt

IRF2BPL-related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein-Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability and developmental regression. There are no reports of genotype-phenotype correlations. We developed a retrospective and prosp...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7bb8a0fd-0571-59a1-be1d-36141876e0ca
DOI: 10.64898/2026.03.03.26347377

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Patient and family reported clinical picture of <i>IRF2BPL</i> -related disordersDOI 10.64898/2026.03.03.26347377Read

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.Semantic proximity Read

Loss-of-function in <i>IRF2BPL</i> is associated with neurological phenotypesSemantic proximity Read

Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature.Semantic proximity Read

IRF2BPL gene variants with dystonia: one new Chinese case report.Semantic proximity Read

Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL.Semantic proximity Read

IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.Semantic proximity Read

IRF2BPL: A new genotype for progressive myoclonus epilepsies.Semantic proximity Read

Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.Semantic proximity Read

First Report of an Inherited MYCBP2 Neurodevelopmental Disorder: Review of Proband and Parent PresentationSemantic proximity Read

Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.Semantic proximity Read

IRF2BPL gene variants: One new case.Semantic proximity Read

Defining FBXO11-Related Neurodevelopmental Disorder: Clinical, Molecular and Facial Assessment of 21 PatientsSemantic proximity Read