OBO ID: DOID:0060415
Term Name: chromosome 2p16.1-p15 deletion syndrome Search Ontology:
Synonyms:
  • 2p15-p16.1 microdeletion syndrome
  • 2p15p16.1 microdeletion syndrome
Definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. https://pubmed.ncbi.nlm.nih.gov/26019277/
References:
Ontology: Human Disease   ( DOID:0060415 )
Relationships
is a type of:
OTHER chromosome 2p16.1-p15 deletion syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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