SHH - Gene browser

SHH

sonic hedgehog signaling molecule

HCNC Approved Symbol: SHH (HGNC:10848)
Genomic Coordinates: 7:155,799,980 - 155,812,463 (7q36.3)
Synonyms: HHG1, SMMCI, TPT, TPTPS, MCOPCB5, HPE3, HLP3
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the SHH gene.

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

02
Patient count

Atrial septal defect: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
External ear malformations: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Genu valgum: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Global developmental delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Microcephaly: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)