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NAGLU and developmental delay are reported together in 1 article.
Gene
NAGLU
- HGNC
- HGNC:7632
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
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 60A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.
PMID 36415369 | PMCID PMC9675415 | DOI 10.7759/cureus.30519 · Cureus · 2022 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NAGLU | “A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Moreover, she suffered from hepatosplenomegaly, generalized muscular atrophy, global developmental delay, and scoliosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | mucopolysaccharidosis | “A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “Mucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord.” | 0.98 | phenotype_alias_lexicon_v2 |