OBO ID: DOID:0111687
Term Name: Potocki-Shaffer syndrome Search Ontology:
Synonyms:
  • 11p11.2 deletion
  • proximal 11p deletion syndrome
Definition: A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. (3)
References:
Ontology: Human Disease   ( DOID:0111687 )
Relationships
is a type of:
OTHER Potocki-Shaffer syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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