CSDE1 - Gene browser

CSDE1

cold shock domain containing E1

HCNC Approved Symbol: CSDE1 (HGNC:29905)
Genomic Coordinates: 1:114,716,916 - 114,757,984 (1p13.2)
Synonyms: D1S155E, UNR
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CSDE1 gene.

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

01
Patient count

Abnormality of hair texture: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Autistic behavior: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Coarse facial features: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Curly hair: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Depressed nasal bridge: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)