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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
Related Genes
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:0000445 | Wide nose |
| HP:0001382 | Joint hypermobility |
| HP:0004523 | Long eyebrows |
| HP:0001249 | Intellectual disability |
| HP:0011229 | Broad eyebrow |
| HP:0001263 | Global developmental delay |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0002553 | Highly arched eyebrow |
| HP:0000431 | Wide nasal bridge |
| HP:0001270 | Motor delay |
