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GENATLAS PHENOTYPE

last update : 23/12/2008

Symbol	ABCD
Location	13q22.3
Name	albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness
Other name(s)	ABCD syndrome black lock-albinism-deafness syndrome
Corresponding gene	EDNRB
Other symbol(s)	BADS
Main clinical features	neural crest syndrome with macrosomy, albinism, a black lock at the right temporal occipital region, and retinal depigmentation associated with bilateral deafness, confirmed by brainstem auditory evoked potentials, a severe defect of intestinal innervation; at biopsy, aganglionosis of the large intestine together with total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/gastrointestinal
	ear
	dermatology
Type	disease

Gene product

Name	endothelin receptor type B

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