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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:0001290 | Generalized hypotonia |
| HP:0003593 | Infantile onset |
| HP:0001249 | Intellectual disability |
| HP:0002126 | Polymicrogyria |
| HP:0000252 | Microcephaly |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0001263 | Global developmental delay |
| HP:0008936 | Axial hypotonia |
| HP:0001347 | Hyperreflexia |
| HP:0000007 | Autosomal recessive inheritance |
