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TECPR2

tectonin beta-propeller repeat containing 2

HCNC Approved Symbol
TECPR2 (HGNC:19957)
Genomic Coordinates
14:102,362,941 - 102,502,477 (14q32.33)
Synonyms
KIAA0329
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the TECPR2 gene.

Frequently observed phenotypes

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

Flat face
 2 (100.0%)
Full cheeks
 2 (100.0%)
Generalized hypotonia
 2 (100.0%)
Global developmental delay
 2 (100.0%)
Laryngomalacia
 2 (100.0%)
TECPR2 - Gene browser | 3billion