Term Name: neurodevelopmental disorder with hypotonia and speech delay
Synonyms: NEDHSS
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.
Ontology: Human Disease [DOID:0070512]   ( DOID:0070512 )

Relationships
is a type of: autosomal genetic disease syndrome