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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:0000316 | Hypertelorism |
| HP:0000268 | Dolichocephaly |
| HP:0000400 | Macrotia |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000322 | Short philtrum |
| HP:0000276 | Long face |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000307 | Pointed chin |
| HP:0000369 | Low-set ears |
| HP:0000256 | Macrocephaly |
