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autosomal recessive intellectual developmental disorder 46
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081210
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 443855 | ndst1.S | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 496577 | ndst1 | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108710821 | ndst1.L | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 L homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0000687 | Widely spaced teeth |
| HP:0003593 | Infantile onset |
| HP:0000411 | Protruding ear |
| HP:0002119 | Ventriculomegaly |
| HP:0100716 | Self-injurious behavior |
| HP:0001249 | Intellectual disability |
| HP:0000286 | Epicanthus |
| HP:0001251 | Ataxia |
| HP:0002360 | Sleep abnormality |
