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autosomal recessive intellectual developmental disorder 59
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081221
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000718 | Aggressive behavior |
| HP:0011999 | Paranoia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
