Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000482 Microcornea Very frequent (99-80%)
HP:0000567 Chorioretinal coloboma Very frequent (99-80%)
HP:0007968 Remnants of the hyaloid vascular system Very frequent (99-80%)
HP:0011502 Posterior lenticonus Very frequent (99-80%)
HP:0000556 Retinal dystrophy Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0000568 Microphthalmia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID