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Metadata
ID	DOID:0070512
Name	neurodevelopmental disorder with hypotonia and speech delay
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/
Xrefs	MIM:620455
SKOS	exactMatch MIM:620455
Subsets	DO_rare_slim
Synonyms	NEDHSS [EXACT]
Parent Relationships	is_a syndrome is_a autosomal genetic disease
Subclass Logical Relationships	has material basis in some autosomal inheritance