Term Name: isolated microphthalmia 6
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 )

Relationships
is a type of: autosomal recessive disease isolated microphthalmia