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Human Disease

3p deletion syndrome

Term ID
DOID:0060417
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. (2)
References
Ontology
Human Disease   ( DOID:0060417 )
Relationships
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Genes Involved
Zebrafish Models