Term Name: | neurodevelopmental disorder with hypotonia and speech delay |
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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 ) |