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CRELD1

cysteine rich with EGF like domains 1

HCNC Approved Symbol
CRELD1 (HGNC:14630)
Genomic Coordinates
3:9,933,834 - 9,945,406 (3p25.3)
Synonyms
CIRRIN, AVSD2
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CRELD1 gene.

Frequently observed phenotypes

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

Coarctation of aorta
 1 (100.0%)
Dysmorphic facies
 1 (100.0%)
Hearing loss
 1 (100.0%)
Short stature
 1 (100.0%)
Ventricular septal defect
 1 (100.0%)
CRELD1 - Gene browser | 3billion