isolated microphthalmia 6 (DOID:0060835)
Alliance: disease page
Synonyms: MCOP6; posterior nonsyndromic microphthalmia
Alt IDs: OMIM:613517, ICD10CM:Q11.0, ORDO:2542
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.