OBO ID: DOID:0060402
Term Name: chromosome 17p13.1 deletion syndrome Search Ontology:
Synonyms:
Definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. https://pubmed.ncbi.nlm.nih.gov/19617690
References:
Ontology: Human Disease   ( DOID:0060402 )
Relationships
is a type of:
OTHER chromosome 17p13.1 deletion syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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