Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Rafiq syndrome
Summary
- Synonym
-
- MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
- Definition
- An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081097
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43436 | alpha-Man-Ib | alpha-Mannosidase class I b |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UKM7 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0000400 | Macrotia |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000445 | Wide nose |
| HP:0000448 | Prominent nose |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000718 | Aggressive behavior |
