Gene Symbol:
HADHB
HGNC:4803
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p23.3
Filters:

Definitive classifications

mitochondrial trifunctional protein deficiency
AR
05/08/2018
Evaluated
04/21/2024
Submitted

Strong classifications

mitochondrial trifunctional protein deficiency
Submitted as: OMIM:609015
AR
01/03/2021
Evaluated
01/21/2021
Submitted
mitochondrial trifunctional protein deficiency
Submitted as: OMIM:609015
AR
03/23/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

mitochondrial trifunctional protein deficiency
Submitted as: Orphanet:746
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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