Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 25-11-2013
Symbol PAMD2
Location 3p24.2
Name pulmonary agenesis, microphthalmia, and diaphragmatic defect 2
Other name(s) syndromic microphthalmia-12
Corresponding gene RARB
Other symbol(s) MCOPS12, PDAC2
Main clinical features
  • bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia, who also exhibited mild facial dysmorphism with broad nasal root and tip and micrognathia
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder eye
    respiratory
    Type disease
    Remark(s)