NEFH - Gene browser

NEFH

neurofilament heavy chain

HCNC Approved Symbol: NEFH (HGNC:7737)
Genomic Coordinates: 22:29,480,218 - 29,491,390 (22q12.2)
Synonyms: NF-H, NFH
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

3Patients

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

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

03
Patient count

Eyelid ptosis: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Increased deep tendon reflexes in the lower limbs: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Intention tremor: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Myasthenia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Myopathy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)