Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-04-2010
Symbol PHIG
Location 6q22.1
Name pancreatic hypoplasia, intestinal atresia, and gallblader aplasia
Other name(s) Martinez-Frias syndrome
Corresponding gene RFX6
Main clinical features
  • syndrome of neonatal diabetes
  • characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s)