Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL): first case reported in Argentina.

Archivos argentinos de pediatria - 1 Dec 2025

Linares Manuel, Lambertucci Micaela, Castellani Mateo

Abstract excerpt

Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) is a rare condition associated with mutations in the DHX30 gene, which encodes an RNA helicase involved in regulating the translation and stability of messenger RNA. Fewer than 110 cases worldwide have been documented, with no previous reports in Argentina. We present the case of an 11-month-old girl who was admitted to the hospital...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Argentina
Share to Infant
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neurodevelopmental Disorders

Source

Identifiers

PMID: 40591572
DOI: 10.5546/aap.2025-10669.eng

Genes

DHX30

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL): first case reported in Argentina.PMID 40591572Read ↗

Untangling Neurodevelopmental Disorders in the Adulthood: A Movement Disorder is the Clue.Semantic proximity Read ↗

Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.Semantic proximity Read ↗

Adult Diagnosis of ATN1-Related Neurodevelopmental Disorder: A Case Report of a Mild Phenotype with In-Frame Tandem Duplication in the HX MotifSemantic proximity Read ↗

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.Semantic proximity Read ↗

The natural history of infantile neuroaxonal dystrophy.Semantic proximity Read ↗

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.Semantic proximity Read ↗

Dyke-Davidoff-Masson Syndrome in a Tanzanian patient: A case reportSemantic proximity Read ↗

Genotype–phenotype correlations and novel molecular insights into the <i>DHX30</i>-associated neurodevelopmental disordersSemantic proximity Read ↗

Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.Semantic proximity Read ↗

Clinical and Genetic Characterization of Two Colombian Patients with PURA-Related Neurodevelopmental Disorder: Expanding the Latin American Phenotypic SpectrumSemantic proximity Read ↗

A Novel De Novo Ddx3x Missense Variant in a Female With Brachycephaly and Intellectual Disability: A Case ReportSemantic proximity Read ↗

New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.