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ALDH4A1 and inborn error of metabolism are reported together in 1 article.
Gene
ALDH4A1
- HGNC
- HGNC:406
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Inborn error of metabolism
- HPO
- HP:0001939
99articles
99mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.
PMID 41602883 | PMCID PMC12832875 | DOI 10.3389/fped.2025.1726800 · Frontiers in pediatrics · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALDH4A1 | “Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.” | 0.98 | hgnc_dict_v1 |
| phenotype | inborn error of metabolism | “Hyperprolinemia type II (HPII) is a rare inherited metabolic disorder caused by the ALDH4A1 gene variant.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | autism spectrum disorder | “Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Herein, we report a case of a preschool-aged Saudi girl who was born from consanguineous parents and presented with global developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |