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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.