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hyperphosphatasia with impaired intellectual development syndrome 4
Summary
- Synonym
-
- GPIBD62
- HPMRS6
- glycosylphosphatidylinositol biosynthesis defect 62
- hyperphosphatasia with mental retardation syndrome 6
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070436
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000594 | Shallow anterior chamber |
| HP:0000637 | Long palpebral fissure |
| HP:0000657 | Oculomotor apraxia |
| HP:0000729 | Autistic behavior |
| HP:0000767 | Pectus excavatum |
| HP:0001009 | Telangiectasia |
| HP:0001195 | Single umbilical artery |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 27315 | PGAP2 | post-GPI attachment to proteins 2 |
| 284098 | PIGW | phosphatidylinositol glycan anchor biosynthesis class W |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L |
