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DYM and intellectual disability are reported together in 3 articles.
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
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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
3 records shown · first 60A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
PMID 32766185 | PMCID PMC7378890 | DOI 10.3389/fped.2020.00383 · Frontiers in pediatrics · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DYM | “A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Clinical features like spondyloepimetaphyseal dysplasia, indicative of characteristic skeletal abnormalities, and intellectual disability were observed.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | skeletal dysplasia | “Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “Methods and Results: In the current study, we examined a Pakistani consanguineous family with three affected members.” | 0.80 | saudi_context_rules_v1 |
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
PMID 32886330 | DOI 10.1007/s11033-020-05774-z · Molecular biology reports · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DYM | “A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | skeletal dysplasia | “Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “Here, we report characterization of large consanguineous family segregating DMC in autosomal recessive manner.” | 0.80 | saudi_context_rules_v1 |
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
PMID 20865280 | DOI 10.1007/s00431-010-1298-0 · European journal of pediatrics · 2011 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DYM | “The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | skeletal dysplasia | “In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “To the best of our knowledge, this is the first report of DMC from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |