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DYM and developmental delay are reported together in 1 article.
Gene
DYM
- HGNC
- HGNC:21317
7articles
7mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
skeletal dysplasia 5intellectual disability 3celiac disease 1coronary artery disease 1developmental delay 1dyslipidemia 1mucopolysaccharidosis 1
Reported variants (articles · ClinVar status)
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 60Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.
PMID 40092007 | PMCID PMC11907214 | DOI 10.7759/cureus.78881 · Cureus · 2025 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DYM | “Dyggve-Melchior-Clausen (DMC) syndrome is an autosomal skeletal dysplasia, caused by mutations in the DYM gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “The features of this condition include developmental delay skeletal deformity, coarse facial features, and skeletal abnormalities.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | celiac disease | “Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | skeletal dysplasia | “Dyggve-Melchior-Clausen (DMC) syndrome is an autosomal skeletal dysplasia, caused by mutations in the DYM gene.” | 0.98 | phenotype_alias_lexicon_v2 |