Term Name: | isolated microphthalmia 6 |
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Synonyms: | MCOP6, posterior nonsyndromic microphthalmia |
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. |
Ontology: | Human Disease [DOID:0060835] ( DOID:0060835 ) |