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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:0000565 | Esotropia |
| HP:0002360 | Sleep abnormality |
| HP:0100716 | Self-injurious behavior |
| HP:0002197 | Generalized-onset seizure |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0011463 | Childhood onset |
| HP:0000718 | Aggressive behavior |
| HP:0003621 | Juvenile onset |
| HP:0001302 | Pachygyria |
