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GENATLAS PHENOTYPE

last update : 10-04-2018

Symbol	CAASDS
Location	20p11.21
Name	craniofacial anomalies and anterior segment dysgenesis syndrome
Corresponding gene	VSX1
Main clinical features	wide interpupillary distance, abnormal corneal endothelium, and unusual pinnae; other features included partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus electrophysiologic examination provided evidence for abnormal cone bipolar cells (on visual evoked response and electroretinogram) in affected adult patients
Genetic determination	autosomal dominant
Function/system disorder	eye
	neurology
Type	disease

Remark(s)