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autosomal recessive intellectual developmental disorder 75
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081234
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000719 | Inappropriate behavior |
| HP:0012169 | Self-biting |
| HP:0001249 | Intellectual disability |
| HP:0002354 | Memory impairment |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002067 | Bradykinesia |
| HP:0007164 | Slowed slurred speech |
| HP:0000752 | Hyperactivity |
| HP:0012170 | Nail-biting |
| HP:0001250 | Seizure |
