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Metadata
ID	DOID:0060417
Name	3p deletion syndrome
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. https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome, https://pubmed.ncbi.nlm.nih.gov/19760623
Xrefs	ICD10CM:Q93.5 OMIM:613792 ORDO:1620
Subsets	DO_rare_slim
Synonyms	chromosome 3pter-P25 deletion syndrome [EXACT] distal monosomy 3p [EXACT]
Parent Relationships	is_a chromosomal deletion syndrome is_a autosomal dominant disease