X-linked endothelial corneal dystrophy

X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.



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Total: 0 (papers)
  


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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:0000585 Band keratopathy Very frequent (99-80%)
HP:0007663 Reduced visual acuity Very frequent (99-80%)
HP:0007957 Corneal opacity Very frequent (99-80%)
HP:0011488 Abnormal corneal endothelium morphology Very frequent (99-80%)
HP:0000565 Esotropia Very rare (4-1%)
HP:0000639 Nystagmus Very rare (4-1%)
HP:0100018 Nuclear cataract Very rare (4-1%)


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