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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:0000639 | Nystagmus |
| HP:0010862 | Delayed fine motor development |
| HP:0000718 | Aggressive behavior |
| HP:0001520 | Large for gestational age |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001250 | Seizure |
| HP:0002194 | Delayed gross motor development |
| HP:0000486 | Strabismus |
| HP:0004322 | Short stature |
| HP:0000713 | Agitation |
