Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 11/03/2008
Symbol MCOPS6
Location 14q22.2
Name microphthalmia syndromic 6
Corresponding gene BMP4
Other symbol(s) AM
Main clinical features
  • anophthalmia-microphthalmia, retinal dystrophy, myopia, and polysyndactyly, brain anomalies
    • Genetic determination autosomal recessive
    Related entries DEL14Q22
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   haploinsufficiency a frameshift mutation and a nonconservative missense, in one family each
    Remark(s) overlap between the BMP4 and hedgehog signaling pathways