Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand |
| HP:0009882 | Short distal phalanx of finger |
| HP:0010743 | Short metatarsal |
| HP:0011309 | Tapered toe |
| HP:0011344 | Severe global developmental delay |
| HP:0011951 | Aspiration pneumonia |
| HP:0011968 | Feeding difficulties |
| HP:0012386 | Absent hallux |
| HP:0012725 | Cutaneous syndactyly |
| HP:0200021 | Down-sloping shoulders |
