ArticleNeurology. Genetics2025
Refining the Phenotypic and Genotypic Spectrum of
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.Global medical genetics · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: The aim of this report was to describe the phenotypic and genotypic spectrum of Methods: This study comprises a case series conducted from January 2016 to October 2024, along with a systematic review of Results: We studied 64 individuals, including 4 from this case series and 60 from previous literature. The median reported age at disease onset ranged from 2.5 to 6 months. The most prevalent neurologic feature was microcephaly (55/64; 85.9%), followed by cerebellar atrophy (29/34; 85.3%), ocular abnormalities (54/64; 84.4%), axial hypotonia (52/64; 81.3%), and movement disorders (40/64; 62.5%). Proteinuria (37/64; 57.8%) was the leading extraneurologic feature while hiatal hernia (2/64; 3.1%) was the least observed classic feature. All individuals exhibited psychomotor impairment. A total of 18 Discussion:
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.