Disease #04618 (CORD20 (dystrophy, cone-rod, type 20 (CORD20)), OMIM:615973)

Official abbreviation CORD20
Name dystrophy, cone-rod, type 20 (CORD20)
OMIM ID 615973
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene POC1B
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00324548 FamPat305 PubMed: Durlu 2014 4-generation family, 4 affected (3F, M) F yes Turkey - >61y 0 - - CORD20 decreased central vision (HP:0007663), dyschromatopsia (HP:0000551) and extreme photophobia (HP:0000613) POC1B POC1B 2 4 Najlae Akhiyate
00371675 178457 - - M yes ? (unknown) - - 0 - - CORD20 (+) Visual impairment,(+) Cone/cone-rod dystrophy/ Cone-rod dystrophy, onset at about 12 years, now visual acuity at 10%, parents consanguine (cosuins 1°) POC1B POC1B 1 1 Andreas Laner
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