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BICD2

BICD cargo adaptor 2

HCNC Approved Symbol
BICD2 (HGNC:17208)
Genomic Coordinates
9:92,711,363 - 92,764,833 (9q22.31)
Synonyms
KIAA0699
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the BICD2 gene.

Frequently observed phenotypes

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

Hypotonia
 3 (25.0%)
Myopathy
 2 (16.7%)
Calcaneovalgus deformity
 2 (16.7%)
Bone fractures
 2 (16.7%)
Cerebellar atrophy
 2 (16.7%)
BICD2 - Gene browser | 3billion