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SHANK2

SH3 and multiple ankyrin repeat domains 2

HCNC Approved Symbol
SHANK2 (HGNC:14295)
Genomic Coordinates
11:70,467,854 - 71,253,228 (11q13.3-q13.4)
Synonyms
CTTNBP1, ProSAP1, SHANK, SPANK-3, CORTBP1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SHANK2 gene.

Frequently observed phenotypes

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

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