rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Visual impairment in FOXG1-mutated individuals and mice.
|
27001178 |
2016 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
|
21441262 |
2011 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.
|
20356955 |
2010 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
|
26344814 |
2016 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prospective observations on stopping prolonged venom immunotherapy.
|
2760358 |
1989 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
|
22998673 |
2012 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
RettBASE: Rett syndrome database update.
|
28544139 |
2017 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
|
19578037 |
2010 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
|
26364767 |
2015 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.
|
25565401 |
2015 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
FOXG1 is responsible for the congenital variant of Rett syndrome.
|
18571142 |
2008 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Somatic mosaicism for a FOXG1 mutation: diagnostic implication.
|
24766421 |
2014 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Epilepsy and outcome in FOXG1-related disorders.
|
24836831 |
2014 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Delineation of the movement disorders associated with FOXG1 mutations.
|
27029630 |
2016 |
rs1555321367
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
|
27640358 |
2016 |