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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9HB75 | p53-induced death domain-containing protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012471 | Thick vermilion border |
| HP:0011463 | Childhood onset |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0000752 | Hyperactivity |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0100716 | Self-injurious behavior |
| HP:0001263 | Global developmental delay |
| HP:0000718 | Aggressive behavior |
| HP:0000719 | Inappropriate behavior |
