OBSL1 - Gene browser

OBSL1

obscurin like cytoskeletal adaptor 1

HCNC Approved Symbol: OBSL1 (HGNC:29092)
Genomic Coordinates: 2:219,547,206 - 219,571,539 (2q35)
Synonyms: KIAA0657
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the OBSL1 gene.

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

012
Patient count

Short limbs: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Dwarfism: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Short stature: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Disproportionate short stature: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Joint laxity: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)