|OBO ID: DOID:0060837|
|Term Name:||isolated microphthalmia 5||Search Ontology:|
|Definition:||An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (3)|
|Ontology:||Human Disease (DOID:0060837)|
|is a type of:||
OTHER isolated microphthalmia 5 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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