Gene Symbol:
CHD7
HGNC:20626
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q12.2
Filters:

CHARGE syndrome classifications

CHARGE syndrome
Submitted as: OMIM:214800
AD
10/09/2020
Evaluated
11/09/2020
Submitted
CHARGE syndrome
Submitted as: OMIM:214800
AD
07/22/2015
Evaluated
09/11/2023
Submitted
CHARGE syndrome
Submitted as: Orphanet:138
AD
09/14/2021
Evaluated
09/14/2021
Submitted
CHARGE syndrome
Submitted as: OMIM:214800
AD
07/06/2023
Evaluated
11/30/2023
Submitted

Hypogonadotropic hypogonadism classifications

hypogonadotropic hypogonadism
Submitted as: Orphanet:432
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Hypogonadotropic hypogonadism 5 with or without anosmia classifications

hypogonadotropic hypogonadism 5 with or without anosmia
Submitted as: OMIM:612370
AD
07/03/2023
Evaluated
11/30/2023
Submitted

Kallmann syndrome classifications

Kallmann syndrome
Submitted as: Orphanet:478
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Omenn syndrome classifications

Omenn syndrome
Submitted as: Orphanet:39041
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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