3p deletion syndrome (DOID:0060417)
Alliance: disease page
Synonyms: chromosome 3pter-P25 deletion syndrome; distal monosomy 3p
Alt IDs: OMIM:613792, ICD10CM:Q93.5, ORDO:1620
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.