|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
|
28422132 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
|
28422132 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
|
25652421 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
|
27435318 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
|
27435318 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic aspects of KBG syndrome.
|
27667800 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic aspects of KBG syndrome.
|
27667800 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
|
25652421 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
|
25424714 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
|
25424714 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
|
25413698 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
|
25413698 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
|
25125236 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
|
25125236 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.
|
23885231 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
|
23184435 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
|
23494856 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.
|
23885231 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
|
23184435 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
|
23494856 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
|
21782149 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
|
21782149 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
|
17526801 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.
|
17230487 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
|
17508425 |
2007 |