DDHD2 - Gene browser | 3billion

DDHD2

DDHD2

DDHD domain containing 2

HCNC Approved Symbol: DDHD2 (HGNC:29106)
Genomic Coordinates: 8:38,231,585 - 38,273,647 (8p11.23)
Synonyms: KIAA0725, SPG54, p125B, iPLA1gamma, iPLA1γ, SAMWD1
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 DDHD2 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Frequent falls: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Heart murmur: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Pectus excavatum: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Spastic paraparesis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

DDHD2 - Gene browser | 3billion