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FKTN

fukutin

HCNC Approved Symbol
FKTN (HGNC:3622)
Genomic Coordinates
9:105,558,130 - 105,641,118 (9q31.2)
Synonyms
LGMD2M, FCMD
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Cardiomyopathy, dilated, 1X
611615AR
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
253800AR
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4
613152AR
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
611588AR

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the FKTN gene.

Frequently observed phenotypes

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

Cerebellar cyst
 1 (33.3%)
Elevated serum creatine kinase
 1 (33.3%)
Gray matter heterotopia
 1 (33.3%)
Infantile muscular hypotonia
 1 (33.3%)
Seizure
 1 (33.3%)