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FH

fumarate hydratase

HCNC Approved Symbol
FH (HGNC:3700)
Genomic Coordinates
1:241,497,603 - 241,519,755 (1q43)
Synonyms
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the FH gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Cerebral atrophy
 2 (22.2%)
Deep palmar creases
 2 (22.2%)
Dystonia
 2 (22.2%)
Early closure of the fontanelles
 2 (22.2%)
Failure to thrive, severe
 2 (22.2%)
FH - Gene browser | 3billion