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autosomal dominant intellectual developmental disorder 56
Summary
- Synonym
-
- autosomal dominant intellectual developmental disorder-56
- autosomal dominant mental retardation 56
- Definition
- An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0080226
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q00610 | Clathrin heavy chain 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000639 | Nystagmus |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001257 | Spasticity |
| HP:0001336 | Myoclonus |
| HP:0001250 | Seizure |
| HP:0001508 | Failure to thrive |
| HP:0001265 | Hyporeflexia |
| HP:0002063 | Rigidity |
