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GENATLAS PHENOTYPE
last update : 28-11-2018
Symbol HTS4
Location 1q32
Name hereditary hypotrichosis simplex 4
Other name(s) Hypotrichosis 11
Corresponding gene SNRPE
Other symbol(s) HYPT11
Main clinical features
  • nonsyndromic hypotrichosis
  • hypotrichosis involving the scalp, eyebrows, and eyelashes, as well as axillary and body hair, but sparing the pubic hair
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein  
    Remark(s)