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GENATLAS PHENOTYPE

last update : 12-06-2010

Symbol	COFS4
Location	19q13.32
Name	cerebro-oculo-facio-skeletal syndrome 4
Corresponding gene	ERCC1
Main clinical features	microcephaly with premature closure of fontanels, bilateral microphthalmia, blepharophimosis, high nasal bridge, short philtrum, micrognathia, low-set and posterior-rotated ears, arthrogryposis with rocker-bottom feet, flexion contractures of the hands, and bilateral congenital hip dislocation on nuclear magnetic resonance, a simplified gyral pattern and cerebellar hypoplasia, mild hypoplasia of the kidneys, with normal structure and function
Genetic determination	autosomal recessive
Related entries	including cases mimicking Cockayne syndrome (PMID: 23623389)
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)