| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
chromosome 3pter-P25 deletion syndrome [EXACT] distal monosomy 3p [EXACT] |
| Parent Relationships |