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
Baraitser-Winter syndrome 2
Summary
- Definition
- A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
- Super Class
- Baraitser-Winter syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081113
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000072 | Hydroureter |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000233 | Thin vermilion border |
| HP:0000239 | Large fontanelles |
| HP:0000243 | Trigonocephaly |
| HP:0000252 | Microcephaly |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
