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autosomal dominant intellectual developmental disorder 55
Summary
- Synonym
-
- autosomal dominant intellectual developmental disorder-55 with seizures
- autosomal dominant mental retardation 55
- Definition
- An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0080227
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96E22 | Dehydrodolichyl diphosphate synthase complex subunit NUS1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001315 | Reduced tendon reflexes |
| HP:0004322 | Short stature |
| HP:0100660 | Dyskinesia |
| HP:0002421 | Poor head control |
| HP:0011968 | Feeding difficulties |
| HP:0002355 | Difficulty walking |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0012447 | Abnormal myelination |
| HP:0002521 | Hypsarrhythmia |
| HP:0002317 | Unsteady gait |
