Term Name: | 3p deletion syndrome |
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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. |
Ontology: | Human Disease [DOID:0060417] ( DOID:0060417 ) |