neurodevelopmental disorder with speech impairment and dysmorphic facies

Term ID

DOID:0070417

Synonyms

• NEDSID

Definition

A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. https://pubmed.ncbi.nlm.nih.gov/32346159/

References

• OMIM:619056

Ontology

Human Disease   ( DOID:0070417 )