Clinical features
Probands with rare heterozygous missense variants in FRMD5 present with developmental delay, intellectual disability, ataxia, seizures, and abnormalities of eye movement.
Prevalence
NEDEMA is thought to be a rare condition with the exact prevalence unknown.
Inheritance
All identified cases have been autosomal dominant, and in those who had parental testing, the variants are de novo (i.e., present only in the affected individual).
FRMD5