Search Ontology:
Human Disease
3p deletion syndrome
- Term ID
- DOID:0060417
- Synonyms
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- 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
- MIM:613792
- ORDO:1620
- Ontology
- Human Disease ( DOID:0060417 )
- is a type of
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