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GENATLAS PHENOTYPE
last update : 04-04-2012
Symbol CHIME
Location 17p11.2
Name colobomas, heart defects, ichthyosiform dermatosis, mental retardation and ear anomalies
Other name(s) Zunich neuroectodermal syndrome
Corresponding gene PIGL
Main clinical features
  • early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, mental retardation, and remarkably similar facial features
  • migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, and conductive hearing loss
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    cardiovascular
    mental retardation
    ear
    eye
    Type disease
    Remark(s)
  • mutations in PIGL impair GPI biosynthesis and are the underlying cause of this disorder.