Conditions / Genetic
Damseh-Danson neurodevelopmental disorder
info ยท Genetic
An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21.
Also known as: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, ABSENT LANGUAGE, AND BEHAVIORAL ABNORMALITIES