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GENATLAS PHENOTYPE

last update : 08-04-2019

Symbol	CARSD
Location	11p15.5
Name	CARS deficiency
Corresponding gene	CARS
Main clinical features	microcephaly, developmental delay, and brittle hair and nails, failure to thrive, non-progressive cognitive delay light microscopy of hair shafts revealed trichoschisis and trichorrhexis nodosa, polarized microscopy showed weak but consistent tiger tail banding
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	dermatology
	eye
Type	disease

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