Article

Defining FBXO11-Related Neurodevelopmental Disorder: Clinical, Molecular and Facial Assessment of 21 Patients

2026-07-22

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Pathogenic variants in <italic>FBXO11</italic> cause a syndromic neurodevelopmental disorder characterised by intellectual disability, behavioural abnormalities, and subtle facial dysmorphism. The genotypic-phenotypic spectrum remains incompletely defined. <bold>Methods</bold> We describe 21 previously unreported individuals with heterozygous pathogenic or...

Topics

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

Identifiers and source

Literature Corpus work: fc78a1ca-7541-5a52-beac-ac6b1977c87e
DOI: 10.21203/rs.3.rs-10148333/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Defining FBXO11-Related Neurodevelopmental Disorder: Clinical, Molecular and Facial Assessment of 21 PatientsDOI 10.21203/rs.3.rs-10148333/v1Read

Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndromeSemantic proximity Read

FBXO11 Variants are Associated with Intellectual Disability and Variable Clinical Manifestation in Chinese PatientsSemantic proximity Read

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Semantic proximity Read

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.Semantic proximity Read

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.Semantic proximity Read

FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.Semantic proximity Read

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Semantic proximity Read

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.Semantic proximity Read

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesSemantic proximity Read

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesSemantic proximity Read

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panelsSemantic proximity Read

Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non-European descent: National Human Genome Research Institute launches online database of facial phenotypes targeting diverse populations.Semantic proximity Read