Isolated microphthalmia 5
Isolated microphthalmia 5
Definition
Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.
Also known as isolated microphthalmia 5, isolated microphthalmia caused by mutation in MFRP, isolated microphthalmia type 5, MCOP5, MFRP isolated microphthalmia, microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome, microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome, microphthalmia, isolated type 5, Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome, Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome, posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen — per MONDO