Gene Symbol:
OTX2
HGNC:8522
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q22.3
Filters:

Combined pituitary hormone deficiencies, genetic form classifications

combined pituitary hormone deficiencies, genetic form
Submitted as: Orphanet:95494
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Isolated anophthalmia-microphthalmia syndrome classifications

isolated anophthalmia-microphthalmia syndrome
Submitted as: Orphanet:2542
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Patterned macular dystrophy classifications

patterned macular dystrophy
Submitted as: Orphanet:99001
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Pituitary hormone deficiency, combined, 6 classifications

pituitary hormone deficiency, combined, 6
Submitted as: OMIM:613986
AD
08/31/2018
Evaluated
03/02/2021
Submitted
pituitary hormone deficiency, combined, 6
Submitted as: OMIM:613986
AD
08/23/2022
Evaluated
11/30/2023
Submitted

Septooptic dysplasia classifications

septooptic dysplasia
Submitted as: Orphanet:3157
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Syndromic microphthalmia type 5 classifications

syndromic microphthalmia type 5
Submitted as: OMIM:610125
AD
07/22/2015
Evaluated
09/11/2023
Submitted
syndromic microphthalmia type 5
Submitted as: OMIM:610125
AD
12/28/2020
Evaluated
12/30/2020
Submitted
syndromic microphthalmia type 5
Submitted as: OMIM:610125
AD
08/30/2018
Evaluated
03/02/2021
Submitted
syndromic microphthalmia type 5
Submitted as: Orphanet:178364
AD
09/14/2021
Evaluated
09/14/2021
Submitted
syndromic microphthalmia type 5
Submitted as: OMIM:610125
AD
09/14/2022
Evaluated
11/30/2023
Submitted

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