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SHQ1

SHQ1, H/ACA ribonucleoprotein assembly factor

HCNC Approved Symbol
SHQ1 (HGNC:25543)
Genomic Coordinates
3:72,725,272 - 72,848,445 (3p13)
Synonyms
FLJ10539, Shq1p
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Dystonia 35, childhood-onset
619921AR
Neurodevelopmental disorder with dystonia and seizures
619922AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the SHQ1 gene.

Frequently observed phenotypes

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

No Results