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Human Disease

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
Ontology
Human Disease   ( DOID:0070417 )
Relationships
is a type of
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Genes Involved
Zebrafish Models