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autosomal recessive intellectual developmental disorder 14
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081188
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0000189 | Narrow palate |
| HP:0003593 | Infantile onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002080 | Intention tremor |
| HP:0000750 | Delayed speech and language development |
