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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:0000729 | Autistic behavior |
| HP:0000973 | Cutis laxa |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001371 | Flexion contracture |
