CHIME syndrome

Term ID

DOID:0112152

Synonyms

• 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
• PIGL-CDG
• Zunich neuroectodermal syndrome
• Zunich-Kaye syndrome

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. https://pubmed.ncbi.nlm.nih.gov/22444671/

References

• GARD:310
• MESH:C536729
• OMIM:280000
• ORDO:3474
• SNOMEDCT_US_2023_03_01:720639008
• UMLS_CUI:C1848392

Ontology

Human Disease   ( DOID:0112152 )