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Also, children with Kabuki syndrome often have distinctive behavioural features.
The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another.
The exact cause of Kabuki syndrome was recently determined.
Kabuki syndrome, a rare genetic disorder characterised by facial dysmorphism.
There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals.
There is no indication that the life expectancy of individuals with Kabuki syndrome is shortened.
Kabuki syndrome; multiple congenital anomalies and mental retardation.
It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form.
Two thirds of a sample of 53 cases of Kabuki Syndrome have a loss-of-function mutation in the MLL2 gene.
On the Kabuki Syndrome listserv, children with this syndrome are called Kabuki Kids, or KKs.
Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them appear to be specific to Kabuki Syndrome.
KMS Kabuki makeup syndrome Niikawa-Kuroki syndrome None Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.
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KMS Kabuki makeup syndrome Niikawa-Kuroki syndrome None Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.
KMS Kabuki makeup syndrome Niikawa-Kuroki syndrome None Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.
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