Kabuki syndrome
has
12
phenotype(s)
Page:
1
2
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Experiment + Assay
Phenotypes
Human Diseases
Fig 2A row3, col2
Schwenty-Lara J et al. (2020)
Xla Wt + kmt2d MO
NF 27
Anatomical Phenotype
abnormal neural crest morphology
Expression Phenotype
decreased amount
twist1.L
expression in cranial neural crest
mislocalised
twist1.L
expression in branchial crest
Kabuki syndrome
Fig1 A row3
Schwenty-Lara J et al. (2020)
Xla Wt + kmt2d MO
NF 42
Anatomical Phenotype
abnormal craniofacial region morphology
abnormal eye morphology
decreased size of the cranial skeleton
Kabuki syndrome
Fig 1 C row2 col1
Schwenty-Lara J et al. (2020)
Xla Wt + kmt2d MO
NF 42
Anatomical Phenotype
abnormal cartilage tissue morphology
abnormal craniofacial skeleton
Kabuki syndrome
Fig. 7 D G
Schwenty-Lara J et al. (2019)
Xla Wt + kmt2d MO
NF28 (in situ hybridization)
Anatomical Phenotype
abnormal development of heart primordium
Expression Phenotype
decreased amount
nkx2-5.L
expression in heart primordium
congenital heart disease
Kabuki syndrome
Fig. 7 E G
Schwenty-Lara J et al. (2019)
Xla Wt + kmt2d MO
NF28 (in situ hybridization)
Anatomical Phenotype
abnormal development of heart primordium
Expression Phenotype
decreased amount
nkx2-5.L
expression in heart primordium
congenital heart disease
Kabuki syndrome
Fig. 5 D E F
Schwenty-Lara J et al. (2019)
Xla Wt + kmt2d MO
NF29/30 (in situ hybridization)
Anatomical Phenotype
abnormal development of heart
Expression Phenotype
decreased amount
myh6.L
expression in heart
congenital heart disease
Kabuki syndrome
Fig. 6 D E F
Schwenty-Lara J et al. (2019)
Xla Wt + kmt2d MO
NF29/30 (in situ hybridization)
Anatomical Phenotype
abnormal development of primary heart field
Expression Phenotype
decreased amount
tbx20.L
expression in primary heart field
congenital heart disease
Kabuki syndrome
Fig. 6 J K L
Schwenty-Lara J et al. (2019)
Xla Wt + kmt2d MO
NF29/30 (in situ hybridization)
Anatomical Phenotype
abnormal development of secondary heart field
Expression Phenotype
decreased amount
isl1.L
expression in secondary heart field
congenital heart disease
Kabuki syndrome
Fig. 2 C D F J I
Schwenty-Lara J et al. (2019)
Xla Wt + kmt2d MO
NF42 (in situ hybridization)
Anatomical Phenotype
abnormal development of heart
abnormal heart morphology
congenital heart disease
Kabuki syndrome
Fig. 3 E E' F F'
Schwenty-Lara J et al. (2019)
Xla Wt + kmt2d MO
NF42 (in situ hybridization)
Anatomical Phenotype
abnormal development of heart
abnormal heart morphology
congenital heart disease
Kabuki syndrome
