Version: 8.0.0
Date: Tue Jan 28 2025
isolated microphthalmia 6
DOID:0060835
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

isolated microphthalmia 6

Definition
An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
Synonyms
  • MCOP6
  • posterior nonsyndromic microphthalmia
Cross References
Parent Terms
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