isolated microphthalmia 6

Term ID

DOID:0060835

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. (2)

References

• ICD10CM:Q11.0
• OMIM:613517
• ORDO:2542

Ontology

Human Disease   ( DOID:0060835 )