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MIRAGE
autosomal recessive intellectual developmental disorder 7
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081183
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13454 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0000252 | Microcephaly |
| HP:0011463 | Childhood onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0010864 | Intellectual disability, severe |
| HP:0001249 | Intellectual disability |
