The Nexmif Syndrome
get to know it
Over the past twenty years, with the advent of the whole exome and genome sequencing, integrated with linkage analysis, more than 150 genes responsible for X-linked intellectual disability have been identified.
What is Nexmif
The name of the gene, the mutation of which causes disability.
How common it is
It is a rare disease that affects less than one every 100,000 children.
Who is affected
It affects males and females since birth, although it can be noticed later.
De novo or hereditary
It can be either hereditary or "de novo", due to a random error in fertilization.
The genotype-phenotype correlation
The symptoms may vary, but males are generally more severely affected.
How it is diagnosed
Through genetic testing, with the support of other clinical and diagnostic evidence.
Is there a cure for Nexmif syndrome?
To date, there is no cure for Nexmif syndrome, only therapies.
Treatment and management
of epilepsy
Epilepsy in females is generally severe and drug-resistant.
What I can do as a parent
Medical therapies are needed. Trying to live in harmony is vital.