RAI1 - Gene browser

RAI1

retinoic acid induced 1

HCNC Approved Symbol: RAI1 (HGNC:9834)
Genomic Coordinates: 17:17,681,458 - 17,811,453 (17p11.2)
Synonyms: DKFZP434A139, SMS, KIAA1820, MGC12824, SMCR
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the RAI1 gene.

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

07
Patient count

Global developmental delay: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Double collecting system: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Dysmorphism: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Exophthalmos: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Intellectual disability, mild: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)