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CHIME syndrome
Summary
- Synonym
-
- PIGL-CDG
- Zunich neuroectodermal syndrome
- Zunich-Kaye syndrome
- coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
- congenital disorder of glycosylation due to PIGL deficiency
- neuroectodermal dysplasia, CHIME type
- neuroectodermal syndrome, Zunich type
- Definition
- A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112152
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001629 | Ventricular septal defect |
| HP:0001636 | Tetralogy of Fallot |
| HP:0001669 | Transposition of the great arteries |
| HP:0001773 | Short foot |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002213 | Fine hair |
| HP:0002488 | Acute leukemia |
| HP:0002797 | Osteolysis |
