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GENATLAS PHENOTYPE

last update : 10-09-2019

Symbol	DOORS
Location	16p13.3
Name	deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
Corresponding gene	TBC1D24
Main clinical features	triphalangeal thumbs, seizures, and abnormal dermatoglyphics, deafness, onychodystrophy, osteodystrophy, mental retardation dysplasia of the fingernails, triphalangeal thumbs, hypoplasia of the terminal phalanges, mental retardation, perceptive deafness increase of 2-oxoglutarate in the plasma and an increase of 2-oxoglutarate and its metabolite alpha-hydroxy-glutarate in the urine
Genetic determination	autosomal recessive
Function/system disorder	ear
	mental retardation
	neurology
Type	disease

Remark(s)