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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:0001719 | Double outlet right ventricle |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001833 | Long foot |
| HP:0002007 | Frontal bossing |
| HP:0002059 | Cerebral atrophy |
| HP:0002066 | Gait ataxia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002136 | Broad-based gait |
| HP:0002240 | Hepatomegaly |
| HP:0002307 | Drooling |
