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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:0006721 | Acute lymphoblastic leukemia |
| HP:0008760 | Violent behavior |
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger |
| HP:0009473 | Joint contracture of the hand |
| HP:0009909 | Uplifted earlobe |
| HP:0010281 | Cleft lower lip |
| HP:0011220 | Prominent forehead |
| HP:0012385 | Camptodactyly |
| HP:0100040 | Broad 2nd toe |
