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DO Term : chromosome 17p13.1 deletion syndrome [DOID:0060402] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:613776,
  • 613776,
  • GARD:10996,
  • MESH:D054221
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents