chromosome 9p deletion syndrome

Term ID

DOID:0060732

Synonyms

• 9p syndrome
• Alfi syndrome
• monosomy 9p syndrome

Definition

A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (3)

References

• ICD10CM:Q93.5
• MESH:C538024
• OMIM:158170
• ORDO:261112

Ontology

Human Disease   ( DOID:0060732 )