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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 11-12-2018
Symbol WHAR
Location 13q14.2
Name wooly hair, autosomal recessive 1, with or without hypotrichosis
Corresponding gene LPAR6
Main clinical features
  • hair over the entire scalp region was coarse, lusterless, dry and tightly curled, leading to a diffuse woolly hair phenotype with varying degrees of hypotrichosis or sparse hair; hair grows slowly and stops growing after a few inches
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s)
    Genotype/Phenotype correlations including hypotrichosis 8 (HYPT8)