FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 13q14 deletion syndrome ID (Ontology) DOID:0060391 (Human Disease)
Definition A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.
Also Known As "deletion 13q14"
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autosomal genetic disease
 |__autosomal dominant disease_____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
                                   chromosome 13q14 deletion syndrome
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Is a autosomal dominant disease
chromosomal deletion syndrome
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Synonyms
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Secondary IDs
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ICD10CM:Q93.5
MIM:613884
ORDO:1587