SMAD4 - Gene browser

SMAD4

SMAD family member 4

HCNC Approved Symbol: SMAD4 (HGNC:6770)
Genomic Coordinates: 18:51,030,213 - 51,085,042 (18q21.2)
Synonyms: DPC4, MADH4
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the SMAD4 gene.

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

09
Patient count

Developmental delay: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Intellectual disability: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Short stature: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Speech delay: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Deep set eye: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)