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GENATLAS PHENOTYPE
last update : 14-04-2015
Symbol AIGH
Location 17q24.2
Name amelogenesis imperfecta and gingival hyperplasia syndrome
Other name(s) Enamel-Renal syndrome
Corresponding gene FAM20A
Other symbol(s) ERS
Main clinical features
  • syndrome characterized by dental anomalies and gingival hyperplasia
  • hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, and nephrocalcinosis
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    kidney and urinary tract
    Type disease
    Remark(s)