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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:0000972 | Palmoplantar hyperkeratosis |
| HP:0001156 | Brachydactyly |
| HP:0001176 | Large hands |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001357 | Plagiocephaly |
| HP:0001507 | Growth abnormality |
| HP:0001520 | Large for gestational age |
| HP:0001537 | Umbilical hernia |
| HP:0001682 | Subvalvular aortic stenosis |
