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glycosylphosphatidylinositol biosynthesis defect 16
Summary
- Synonym
-
- Intellectual developmental disorder, autosomal recessive 62
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081223
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0001249 | Intellectual disability |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002465 | Poor speech |
| HP:0003593 | Infantile onset |
| HP:0001250 | Seizure |
