3p deletion syndrome

Term ID

DOID:0060417

Synonyms

• chromosome 3pter-P25 deletion syndrome
• distal monosomy 3p

Definition

A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (2)

References

• ICD10CM:Q93.5
• OMIM:613792
• ORDO:1620

Ontology

Human Disease   ( DOID:0060417 )