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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:0011198 | EEG with generalized epileptiform discharges |
| HP:0012170 | Nail-biting |
| HP:0001302 | Pachygyria |
| HP:0007164 | Slowed slurred speech |
| HP:0001339 | Lissencephaly |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0003593 | Infantile onset |
| HP:0000565 | Esotropia |
| HP:0001249 | Intellectual disability |
