Term Name: chromosome 17p13.1 deletion syndrome
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.
Ontology: Human Disease [DOID:0060402]   ( DOID:0060402 )

Relationships
is a type of: autosomal dominant disease chromosomal deletion syndrome