chromosome 17p13.1 deletion syndrome

Term ID

DOID:0060402

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

• GARD:10996
• MESH:D054221
• MIM:613776

Ontology

Human Disease   ( DOID:0060402 )