DIAPH1 - Gene browser

DIAPH1

diaphanous related formin 1

HCNC Approved Symbol: DIAPH1 (HGNC:2876)
Genomic Coordinates: 5:141,515,021 - 141,619,000 (5q31.3)
Synonyms: hDIA1, LFHL1, mDia1, DFNA1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the DIAPH1 gene.

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

06
Patient count

Abnormality of nail color: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Absent speech: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Arachnodactyly: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Decreased muscle mass: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Delayed speech: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)