ArticleNature medicine2024
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Article in Nature medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Shared and disorder-specific prenatal and perinatal risk factors for neurodevelopmental disorders: a nationwide cohort study.Molecular psychiatry · 2026Article
- Identification of biallelic loss-of-functionJournal of medical genetics · 2026Article
- Neurodevelopmental comorbidities in juvenile systemic autoimmune and autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.American journal of human genetics · 2025Article
- Article
- Neurobiology of Dystonia: Review of Genetics, Animal Models, and Neuroimaging.Brain sciences · 2025Review
- Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.International journal of obesity (2005) · 2025Article
- Extra-cerebral recombination activity of Emx1-Cre and nestin-Cre in the kidney.Frontiers in cell and developmental biology · 2024Article
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Authors and funding
18 authors.
Funding
Abstract
The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDDs) is not well understood, yet these are important for accurate diagnosis and prognosis in routine care and for characterizing the clinical spectrum of NDD syndromes. We thus developed PhenomAD-NDD, an aggregated database containing the comorbid phenotypic data of 51,227 individuals with NDD, all harmonized into Human Phenotype Ontology (HPO), with in total 3,054 unique HPO terms. We demonstrate that almost all congenital anomalies are more prevalent in the NDD population than in the general population, and the NDD baseline prevalence allows for an approximation of the enrichment of symptoms. For example, such analyses of 33 genetic NDDs show that 32% of enriched phenotypes are currently not reported in the clinical synopsis in the Online Mendelian Inheritance in Man (OMIM). PhenomAD-NDD is open to all via a visualization online tool and allows us to determine the enrichment of symptoms in NDD.
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