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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
- 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:0001382 | Joint hypermobility |
| HP:0001513 | Obesity |
| HP:0001956 | Truncal obesity |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002553 | Highly arched eyebrow |
| HP:0003186 | Inverted nipples |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004523 | Long eyebrows |
| HP:0005338 | Sparse lateral eyebrow |
