×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
25652421
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
25413698
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Clinical and genetic aspects of KBG syndrome.
27667800
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
17508425
2007
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
27435318
2016
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
25424714
2015
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
25125236
2014
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
28422132
2017
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
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
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.
15184363
2004
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
KBG syndrome in a cohort of Italian patients.
15523620
2004
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
KBG syndrome.
17163996
2006
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.
17230487
2007
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
21782149
2011
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
23184435
2013
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
23494856
2013
×
Entrez Id:
29123
Gene Symbol:
ANKRD11
ANKRD11
Muscle hypotonia
0.100
CausalMutation
CLINVAR
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
17526801
2007