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GNAO1

G protein subunit alpha o1

HCNC Approved Symbol
GNAO1 (HGNC:4389)
Genomic Coordinates
16:56,191,489 - 56,357,444 (16q13)
Synonyms
G-ALPHA-o
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Developmental and epileptic encephalopathy 17
615473AD
Neurodevelopmental disorder with involuntary movements
617493AD

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the GNAO1 gene.

Frequently observed phenotypes

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

Global developmental delay
 5 (35.7%)
Lowset ears
 3 (21.4%)
Hypotonia
 3 (21.4%)
Generalized hypotonia
 
2 (14.3%)
Microcephaly
 
2 (14.3%)