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GENATLAS PHENOTYPE
last update : 30-11-2009
Symbol ADULT
Location 3q28
Name acro-dermato-ungual-lacrimal-tooth syndrome
Other name(s) ADULT syndrome
Corresponding gene TP63
Main clinical features
  • ectrodactyly, hypoplastic breasts and nipples, primary hypodontia, sparse hair, extensive freckling, lacrimal duct stenosis, oligodontia, dystrophic nails, reduced sweating, and bilateral athelia, ulnar ray hypoplasia, asociated to eczema and hypothelia
  • Genetic determination autosomal dominant
    Related entries overlapping with ulnar-mammary syndrome (Omim: 181450)
    Function/system disorder congenital malformation
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     V114M
    Remark(s)
    Genotype/Phenotype correlations mutation R280C associated to borderline phenotype