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GENATLAS PHENOTYPE

last update : 18-06-2019

Symbol	TMBTS
Location	1q32.2
Name	Temple-Baraitser syndrome
Corresponding gene	KCNH1
Main clinical features	rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails also frequent seizures and various dysmorphic facial features
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
	osteo-articular
Type	disease

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