SMCHD1 - Gene browser

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

HCNC Approved Symbol: SMCHD1 (HGNC:29090)
Genomic Coordinates: 18:2,655,726 - 2,805,017 (18p11.32)
Synonyms: KIAA0650, FSHD2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the SMCHD1 gene.

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

02
Patient count

Muscle weakness: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Muscular dystrophy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Amenorrhea, primary: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Angioedema: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Hypogonadotrophic hypogonadism: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)