neurodevelopmental disorder with hypotonia and speech delay

Term ID

DOID:0070512

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. https://pubmed.ncbi.nlm.nih.gov/36528028/

References

• OMIM:620455

Ontology

Human Disease   ( DOID:0070512 )