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GENATLAS PHENOTYPE
last update : 26-01-2009
Symbol WS2D
Location 8q11.21
Name Waardenburg syndrome, type 2D
Corresponding gene SNAI2
Main clinical features heterogeneous, predominantly sporadic disorder with auditory and pigmentary features identical to those of Waardenburg syndrome type I but without dystopia canthorum
Genetic determination autosomal recessive
Related entries . including partial albinism, heterochromia of iris, profound bilateral sensorineural deafness, without dystopia canthorum
Function/system disorder ear
dermatology
eye
Type disease
Remark(s)