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Human Disease

Luo-Schoch-Yamamoto syndrome

Term ID
DOID:0070416
Synonyms
  • LUSYAM
Definition
A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. https://pubmed.ncbi.nlm.nih.gov/33864376/
References
Ontology
Human Disease   ( DOID:0070416 )
Relationships
is a type of
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Genes Involved
Zebrafish Models