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Yunis-Varon syndrome
Summary
- Synonym
-
- cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
- cleidocranial dysplasia-micrognathia-absent thumbs syndrome
- Definition
- A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060589
- Mondo Disease Ontology
- MeSH
- UMLS
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92562 | Polyphosphoinositide phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001638 | Cardiomyopathy |
| HP:0001640 | Cardiomegaly |
| HP:0001789 | Hydrops fetalis |
| HP:0001831 | Short toe |
| HP:0001838 | Rocker bottom foot |
| HP:0001840 | Metatarsus adductus |
| HP:0001920 | Renal artery stenosis |
| HP:0002021 | Pyloric stenosis |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002139 | Arrhinencephaly |
