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SEC24D

SEC24 homolog D, COPII coat complex component

HCNC Approved Symbol
SEC24D (HGNC:10706)
Genomic Coordinates
4:118,722,823 - 118,836,126 (4q26)
Synonyms
KIAA0755
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 SEC24D gene.

Frequently observed phenotypes

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

Enamel hypoplasia
 2 (100.0%)
Marked metaphyseal flaring of long bones
 2 (100.0%)
Short stature
 2 (100.0%)
Skeletal dysplasia
 2 (100.0%)
SEC24D - Gene browser | 3billion