Clinical features
Autosomal recessive mutations in the TIAM1 gene cause a neurodevelopmental disorder with language delay and seizures (NEDLDS).
Prevalence
By querying the allele frequency in the Genome Aggregation Database (gnomAD), the p.Arg23Cys variant is 4.04e-4, the p.Ala1547Glu variant is absent, while the p.Leu862Phe is 3.98e-6, p.Gly328Val is 8.18e-6, p.Gly382Arg is 5.66e-5, and p.Ala1339Val is 3.98e-6. All the variants observed in gnomAD are heterozygous individuals at low frequency.
Inheritance
TIAM1-related disorders are inherited in an autosomal recessive manner.
TIAM1