neurodevelopmental disorder with hypotonia and speech delay (DOID:0070512)
Alliance: disease page
Synonyms: NEDHSS
Alt IDs: OMIM:620455
Definition: A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3.