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ADGRG1

adhesion G protein-coupled receptor G1

HCNC Approved Symbol
ADGRG1 (HGNC:4512)
Genomic Coordinates
16:57,619,738 - 57,665,567 (16q21)
Synonyms
TM7LN4, TM7XN1, GPR56
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)
606854AR
Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian)
615752-

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the ADGRG1 gene.

Frequently observed phenotypes

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

Lissencephaly
 4 (36.4%)
Nystagmus
 3 (27.3%)
Pachygyria
 3 (27.3%)
Absent speech
 2 (18.2%)
Ataxia
 2 (18.2%)