|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pilomatricoma Associated with Kabuki Syndrome.
|
27778401 |
2017 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
|
28256057 |
2017 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pilomatricoma Associated with Kabuki Syndrome.
|
27778401 |
2017 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
|
28884889 |
2017 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
|
27991736 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
|
27991736 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
|
28256057 |
2017 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Congenital heart defects in molecularly proven Kabuki syndrome patients.
|
28884922 |
2017 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
|
28295206 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
|
28884889 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
|
28295206 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Congenital heart defects in molecularly proven Kabuki syndrome patients.
|
28884922 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
|
26898171 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
|
27573763 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
|
26194542 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
|
27573763 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
|
26194542 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
|
27568880 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
|
27568880 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
|
26898171 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
|
26049589 |
2015 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
|
25972376 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
|
25972376 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
|
26049589 |
2015 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
|
23320472 |
2013 |