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autosomal recessive intellectual developmental disorder 57
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081219
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002123 | Generalized myoclonic seizure |
| HP:0000729 | Autistic behavior |
| HP:0002540 | Inability to walk |
| HP:0001276 | Hypertonia |
| HP:0007359 | Focal-onset seizure |
| HP:0001344 | Absent speech |
| HP:0001250 | Seizure |
| HP:0002197 | Generalized-onset seizure |
