OBO ID: DOID:0080297
Term Name: Coffin-Siris syndrome 6 Search Ontology:
Synonyms:
Definition: A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. https://pubmed.ncbi.nlm.nih.gov/28124119/
References:
Ontology: Human Disease   ( DOID:0080297 )
Relationships
is a type of:
OTHER Coffin-Siris syndrome 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARID2 Coffin-Siris syndrome 6 617808
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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