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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
3p deletion syndrome
Summary
- Synonym
-
- chromosome 3pter-P25 deletion syndrome
- distal monosomy 3p
- Definition
- A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060417
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| Q5H8C1 | FRAS1-related extracellular matrix protein 1 |
